Human Mutation

Cover image for Vol. 38 Issue 7

Edited By: Garry R. Cutting

Impact Factor: 4.601

ISI Journal Citation Reports © Ranking: 2016: 29/166 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutation and Polymorphism Reports


Copyright © 2000-1996 Wiley-Liss, Inc. All rights reserved.


Announcement from the Publisher

Erratum: A novel splice site mutation (3157 1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype
M. Sironi, S. Corti, F. Locatelli, R. Cagliani, and G.P. Comi
Received October 24, 2000; Revised manuscript accepted January 10, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #241 (2001) Online
Link to original article

A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis
Chi-Fan Yang, Fuu-Jen Tsai, Shuan-Pei Lin, Cheng-Chun Lee, and Jer-Yuarn Wu
Received October 31, 2000; Revised manuscript accepted June 20, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #240 (2001) Online
Print Citation: Volume 18, Issue 3, page 254

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
Bernard Hoffmann, Hajo Schmidt-Traub, Andreas Perrot, Karl Josef Osterziel, and Reinhard Gessner
Received October 31, 2000; Revised manuscript accepted March 29, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #239 (2001) Online
Print Citation: Volume 17, Issue 6, page 524

Identification of an additional allelic variant (XLS) of the human serotonin transporter gene (SLC6A4): -1201Cins66
S.J.W. Delbr’ck, K.K. Kidd, and M.R. Hoehe
Received October 31, 2000; Revised manuscript accepted March 19, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #238 (2001) Online
Print Citation: Volume 17, Issue 6, page 524

Five novel single nucleotide polymorphisms of the RB1 gene (g.5625T>C, g.70169T>G, g.76875A>T, g.78026delA, and g.150072T>C) in retinoblastoma patients
Javier Alonso, Carlos Moreno, Andres Lpez, Marta Mendiola, Purificacin Garc�a-Miguel, Jos‰ Abelairas, Enric Sarret, M. Teresa Vendrell, Aurora Navajas, and Angel Pesta±a
Received August 22, 2000; Revised manuscript accepted February 28, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #237 (2001) Online
Print Citation: Volume 17, Issue 5, page 437

A novel HEXA mutation [1393G>A (D465N)] in a Mexican Tay-Sachs disease patient
Adriana Âlvarez-Rodr�guez, Barbara Triggs-Raine, Patricio Barros-N”±ez, and Claudina Medina Lozano
Received September 1, 2000; Revised manuscript accepted February 16, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #236 (2001) Online
Print Citation: Volume 17, Issue 5, page 437

A new polymorphism (c28C>A) of EXT2 gene identified in a Taiwan Chinese family
Yi-Ru Shi, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee, and Chang-Hai Tsai
Received October 31, 2000; Revised manuscript accepted February 6, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #235 (2001) Online
Print Citation: Volume 17, Issue 4, page 356

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene
D. Feldmann, F. Laroze, C. Troadec, A. Clement, G. Tournier, and R. Couderc
Received October 31, 2000; Revised manuscript accepted February 6, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #234 (2001) Online
Print Citation: Volume 17, Issue 4, page 356

Five novel natural allelic variants - 951A>C, 1042G>A (D348N), 1156A>T (I386F), 1217G>A (C406Y) and 1291C>T (C431Y) - of the human CYP1A2 gene in a French Caucasian population
D. Chevalier, C. Cauffiez, D. Allorge, J.M. Lo-Guidice, M. Lhermitte, J.J. Lafitte, and F. Broly
Received October 29, 2000; Revised manuscript accepted February 6, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #233 (2001) Online
Print Citation: Volume 17, Issue 4, pages 355-356

Detection of known and two novel (M331I and R464S) missense mutations in the human CYP1A1 gene in a French Caucasian population
D. Chevalier, D. Allorge, J.M. Lo-Guidice, C. Cauffiez, M. Lhermitte, J.J. Lafitte, and F. Broly
Received October 10, 2000; Revised manuscript accepted February 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #232 (2001) Online
Print Citation: Volume 17, Issue 4, page 355

A novel b(1-4)galactosyltransferase gene silent mutation (594C>T) associated with Hutchinson-Gilford progeria
M.E. OÆBrien and A.S. Weiss
Received September 29, 2000; Revised manuscript accepted February 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #231 (2001) Online
Print Citation: Volume 17, Issue 4, page 355

Two novel polymorphisms g.1715G>A (A496T) and g.1838G>A (3Æ UTR), and the g.1548G>A (E469K) variant in the intercellular adhesion molecule 1 (ICAM1) gene: distribution in the Japanese and European American populations
Mutsumi Iwao, Hiroko Morisaki, Hiromi Matsunaga, and Takayuki Morisaki
Received October 30, 2000; Revised manuscript accepted January 31, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #230 (2001) Online
Print Citation: Volume 17, Issue 4, page 355

Population analysis of g.2488delG and three novel polymorphisms (g.4497G>A., g.4503G>A and g.2319G>A) in the plasminogen activator inhibitor 1 (PAI-1) gene
Mutsumi Iwao, Hiroko Morisaki, Hiromi Matsunaga, and Takayuki Morisaki
Received October 30, 2000; Revised manuscript accepted January 31, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #229 (2001) Online
Print Citation: Volume 17, Issue 4, page 354

Two novel LDL receptor mutations in familial hypercholesterolemia: C122Y and E296X
Janine Genschel, Hans-Peter Thomas, Ursula Kassner, Herbert Lochs, Elisabeth Steinhagen-Thiessen, and Hartmut H-J. Schmidt
Received October 18, 2000; Revised manuscript accepted January 31, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #228 (2001) Online
Print Citation: Volume 17, Issue 4, page 354

Identification of a polymorphism (D168N) in the XRP2 gene in Chinese
Wei-De Lin, Yi-Ru Shi, Fuu-Jen Tsai, Cheng-Chun Lee, Hui-Ju Lin, and Jer-Yuarn Wu
Received October 31, 2000; Revised manuscript accepted January 26, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #227 (2001) Online
Print Citation: Volume 17, Issue 4, page 354

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years
R‰my Demeester, Jasmine Parma, Pascale Cochaux, Gilbert Vassart, and Marc J. Abramowicz
Received October 24, 2000; Revised manuscript accepted January 26, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #226 (2001) Online
Print Citation: Volume 17, Issue 4, page 354

Identification of a novel de novo mutation (G373D) in the a-galactosidase A gene (GLA) in a patient affected with Fabry disease
Dominique P. Germain, Dominique Salard, Florence Fellmann, Kemal Azibi, Catherine Caillaud, Marie-Charlotte Bernard, and Livia Poenaru
Received October 16, 2000; Revised manuscript accepted January 24, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #225 (2001) Online
Print Citation: Volume 17, Issue 4, page 353

Two polymorphic mutations (c2331A>C and IVS11 142insAGAAATTTTAAGTCTT) in the human peroxin 1 gene (PEX1)
N. Preuss and J. G„rtner
Received July 19, 2000; Revised manuscript accepted January 22, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #224 (2001) Online
Print Citation: Volume 17, Issue 4, page 353

Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene
Irene Marcos, Agust�n Ruiz, Salud Borrego, and Guillermo Anti±olo
Received September 7, 2000; Revised manuscript accepted January 12, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #223 (2001) Online
Print Citation: Volume 17, Issue 4, page 353

A novel splice site mutation (3157 1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype
M. Sironi, S. Corti, F. Locatelli, R. Cagliani, and G.P. Comi
Received October 24, 2000; Revised manuscript accepted January 10, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #222 (2001) Online
Print Citation: Volume 17, Issue 3, page 239
Link to erratum

Hypervariable area in the 5³flanking region of GSTP1, previously reported as a minisatellite ATAAA repeat
Vessela N. Kristensen, Anne-Lise B°rresen-Dale, and Tom Kristensen
Received September 12, 2000; Revised manuscript accepted January 10, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #221 (2001) Online
Print Citation: Volume 17, Issue 3, pages 238–239

A new human mtDNA polymorphism: MTND6: 14562 (C«T)
R. Cittadella, V. Andreoli, I. Manna, R.L. Oliveri, and A. Quattrone
Received October 29, 2000; Revised manuscript accepted January 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #220 (2001) Online
Print Citation: Volume 17, Issue 3, page 238

Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia
H. Rueffert, H. Kraus, D. Olthoff, C. Deutrich, and U.G. Froster
Received October 20, 2000; Revised manuscript accepted January 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #219 (2001) Online
Print Citation: Volume 17, Issue 3, page 238

Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease
Jer-Yuarn Wu, Mei-Chen Wu, Chen-Chun Lee, and Fuu-Jen Tsai
Received October 18, 2000; Revised manuscript accepted January 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #218 (2001) Online
Print Citation: Volume 17, Issue 3, page 238

Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese
Mei-Chen Wu, Jer-Yuarn Wu, Cheng-Chun Lee, Chang-Hai Tsai, and Fuu-Jen Tsai
Received October 16, 2000; Revised manuscript accepted January 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #217 (2001) Online
Print Citation: Volume 17, Issue 3, page 237

Identification of three novel menin mutations (c.741delGTCA, c.1348T>C, c.1785delA) in unrelated Italian families affected with multiple endocrine neoplasia type 1: additional information for mutational screening
C. Asteria, G. Faglia, R. Roncoroni, G. Borretta, P. Ribotto, and P. Beck-Peccoz
Received September 29, 2000; Revised manuscript accepted January 5, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #216 (2001) Online
Print Citation: Volume 17, Issue 3, page 237

Exonic SNPs at positions 220 (A/G) and 445 (C/T) of the peripheral myelin protein 2 (PMP2)
Roger Besan‡on, Philippe Latour, Konecny Lara, Boutrand Laetitia, Ang‰lique Mularoni, Geneviˆve Chamba, and Antoon Vandenberghe
Received October 31, 2000; Revised manuscript accepted January 2, 2001
Online Citation: Human Mutation , Mutation and Polymorphism Report #215 (2001) Online
Print Citation: Volume 17, Issue 3, page 237

A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
Yi-Ru Shi, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee, and Chang-Hai Tsai
Received October 17, 2000; Revised manuscript accepted December 11, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #214 (2000) Online
Print Citation: Volume 17, Issue 2, page 158

Polymorphism (-173G>A) in promoter of human epithelial sodium channel gamma subunit gene (SCNN1G) and association analysis in essential hypertension
Brian J. Morris, Adam V. Benjafield, Kazuhiko Ishikawa, and Naoharu Iwai
Received October 7, 2000; Revised manuscript accepted December 11, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #213 (2000) Online
Print Citation: Volume 17, Issue 2, page 157

A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease
Andrzej Kochanski, Ann Lofgren, Hanna Jedrzejowska, Barbara Ryniewicz, Malwina Czarny-Ratajczak, Anna-Maria Barciszewska, Joanna Samocko, Irena Hausmanowa-Petrusewicz, Peter De Jonghe, Vincent Timmerman, and Anna Latos-Bielenska
Received September 29, 2000; Revised manuscript accepted December 11, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #212 (2000) Online
Print Citation: Volume 17, Issue 2, page 157

A HEXA polymorphism (V436I) common to African-Americans and Ethiopian Jews
L. Peleg, M. Karpati, L. Baram, O. Zolotkovski, and B. Goldman
Received October 19, 2000; Revised manuscript accepted December 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #211 (2000) Online
Print Citation: Volume 17, Issue 2, page 157

A novel intronic polymorphism (intron 2 130 (CT)n) in the human homeobox gene HOXB3
Susan A. Copeland-Yates and Ron C. Michaelis
Received September 15, 2000; Revised manuscript accepted December 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #210 (2000) Online
Print Citation: Volume 17, Issue 2, page 157

A novel intronic polymorphism (intron 2 130 (CT)n) in the human homeobox gene HOXB3
Susan A. Copeland-Yates and Ron C. Michaelis
Received September 15, 2000; Revised manuscript accepted December 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #210 (2000) Online
Print Citation: Volume 17, Issue 2, pages 156-157

Characterization of a new variant of 1-antitrypsin E Johannesburg (H15N) in association with asthma
Ravi Mahadeva, M-Christine Gaillard, Visva Pillay, Andrew Halkas, and David A. Lomas
Received September 5, 2000; Revised manuscript accepted December 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #209 (2000) Online
Print Citation: Volume 17, Issue 2, page 156

Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease
Janine Genschel, Anna Czlonkowska, Grit Sommer, Beata Tarnacka, Carsten Buettner, Bettina Bochow, Herbert Lochs, and Hartmut H-J Schmidt
Received October 11, 2000; Revised manuscript accepted December 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #208 (2000) Online
Print Citation: Volume 17, Issue 2, page 156

A novel polymorphism (471C T) in alpha-1-antitrypsin in a patient with asthma
Visva Pillay, David J. Halsall, Christine Gaillard, David A. Lomas, and Ravi Mahadeva
Received July 21, 2000; Revised manuscript accepted December 6, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #207 (2000) Online
Print Citation: Volume 17, Issue 2, pages 155-156

Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene
Abigail C. Gelb, Glenda S. Manligas, Salam Gharaybeh, and Lisa A. Schimmenti
Received October 25, 2000; Revised manuscript accepted December 1, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #206 (2000) Online
Print Citation: Volume 17, Issue 2, page 155

A novel germline in frame deletion (4128del3) of the BRCA2 gene detected in a breast/ovarian cancer family with fallopian tube and brain tumors identified in the north of France
Liliane Demange, Tetsuro Noguchi, Richard Sauvan, Nathalie Moyal-Amsellem, Daniel Birnbaum, François Eisinger, and Hagay Sobol
Received October 7, 2000; Revised manuscript accepted November 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #205 (2000) Online
Print Citation: Volume 17, Issue 2, page 155

Three novel BRCA2 germline mutations (1864 delT, 6132 del4, 8208 del5) detected in breast cancer families identified in the south of France
Tetsuro Noguchi, Richard Sauvan, Nathalie Moyal-Amsellem, Lèon Boubli, François Eisinger, Daniel Birnbaum, and Hagay Sobol
Received October 7, 2000; Revised manuscript accepted November 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #204 (2000) Online
Print Citation: Volume 17, Issue 2, page 155

Three novel BRCA1 germline mutations (1104 del AA, 1276delTT, 3747delGA) detected in breast/ovarian cancer families identified in the south of France
Richard Sauvan, Tetsuro Noguchi, Nathalie Moyal-Amsellem, Daniel Serin, François Eisinger, Daniel Birnbaum, and Hagay Sobol
Received October 7, 2000; Revised manuscript accepted November 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #203 (2000) Online
Print Citation: Volume 17, Issue 2, page 154

A new mutation in the BRCA1 gene ( g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence
Agnès Hardouin, Jean-Jacques Baumann, Gilbert Roussel, Vèronique Quillien, Catherine Dugast, and Pascaline Berthet
Received September 8, 2000; Revised manuscript accepted November 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #202 (2000) Online
Print Citation: Volume 17, Issue 2, page 154

A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy
Janine Genschel, Bettina Bochow, Susanne Kuepferling, Ralf Ewert, Roland Hetzer, Herbert Lochs, and Hartmut H-J Schmidt
Received September 1, 2000; Revised manuscript accepted November 13, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #201 (2000) Online
Print Citation: Volume 17, Issue 2, page 154

A novel polymorphism (-88 C>A) in the 5' UTR of the p53R2 gene
Johanna Smeds, Mariachiara Nava, Rajiv Kumar, and Kari Hemminki
Received October 16, 2000; Revised manuscript accepted November 13, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #200 (2000) Online
Print Citation: Volume 17, Issue 1, page 82

A novel polymorphism IVS2 843C>T in the alternate promoter b1 of the human AE2 anion exchanger gene
Jon Lecanda, Raquel Urtasun, Sergio Recalde, Jes”s Prieto, and Juan F. Medina
Received October 11, 2000; Revised manuscript accepted November 13, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #199 (2000) Online
Print Citation: Volume 17, Issue 1, page 82

A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
Mei-Chen Wu, Jer-Yuarn Wu, Cheng-Chun Lee, Chang-Hai Tsai, and Fuu-Jen Tsai
Received September 5, 2000; Revised manuscript accepted November 9, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #198 (2000) Online
Print Citation: Volume 17, Issue 1, pages 81-82

A novel elastin gene mutation (1281delC) in a family with supravalvular aortic stenosis: a mutation cluster within exon 20
J. Dedic, A.S. Weiss, J. Katahira, B. Yu, R.J. Trent, and Z. Urbžn
Received August 9, 2000; Revised manuscript accepted November 6, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #197 (2000) Online
Print Citation: Volume 17, Issue 1, page 81

Identification of genetic variants (g789C>T and G111S) in the human HSPB2 gene
Axel Hahner, Jeanette Erdmann, Heike Kallisch, Eckart Fleck, and Vera Regitz-Zagrosek
Received September 29, 2000; Revised manuscript accepted November 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #196 (2000) Online
Print Citation: Volume 17, Issue 1, page 81

T>C transition in codon 72 (TCG½CCG), S72P, a putative hotspot in PMP22
Arif B. Ekici, Oksoon Park, Rudolf Korinthenberg, Holger Grehl, and Bernd Rautenstrauß
Received September 21, 2000; Revised manuscript accepted November 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #195 (2000) Online
Print Citation: Volume 17, Issue 1, page 81

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families
Maria Jose Trujillo, Maria Martinez-Gimeno, Ascension Gimenez, Isabel Lorda, Jose Bueno, Blanca Garcia-Sandoval, Carmen Ramos, Miguel Carballo, and Carmen Ayuso
Received August 22, 2000; Revised manuscript accepted October 31, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #194 (2000) Online
Print Citation: Volume 17, Issue 1, page 80

A new Msp I polymorphism (g1741G>A) in intron 3 of the human d-aminolevulinate dehydratase gene
Bidyut Roy, Nilabja Sikdar, Samiran Ghosh, and Partha P. Majumder
Received September 21, 2000; Revised manuscript accepted October 30, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #193 (2000) Online
Print Citation: Volume 17, Issue 1, page 80

A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease
Takehiko Matsumura, Hitoshi Osaka, Ken Inoue, Naoya Sugiyama, Hideki Onishi, Yoshiteru Yamada, Masaharu Hayashi, and Kenji Kosaka
Received August 3, 2000; Revised manuscript accepted October 30, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #192 (2000) Online
Print Citation: Volume 17, Issue 1, page 80

Identification of two highly informative STRs (GT)15-25 and (GT)9-21 within the critical region of RP25
I. Marcos, S. Borrego, A. Ruiz, J.J. Galžn, and G. Anti±olo
Received August 9, 2000; Revised manuscript accepted October 30, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #191 (2000) Online
Print Citation: Volume 17, Issue 1, page 79

Y688X, the first nonsense mutation in familial Mediterranean fever (FMF)
C‰cile Notarnicola, Raffaele Manna, Jean Marc Rey, and Isabelle Touitou
Received September 12, 2000; Revised manuscript accepted October 30, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #190 (2000) Online
Print Citation: Volume 17, Issue 1, page 79

Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms
Wataru Matsuyama, Masanori Nakagawa, Hiroshi Takashima, Fuminori Muranaga, Yuji Sano, and Mitsuhiro Osame
Received August 11, 2000; Revised manuscript accepted October 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #189 (2000) Online
Print Citation: Volume 17, Issue 1, page 79

A de novo adrenoleukodystrophy gene (ABCD1) mutation S636I without detectable ABCD1 protein and a R104C mutation with normal amounts of protein from an Austrian patient collective
Johannes Berger, Thomas Korosec, Gertraud Unterrainer, and Brunhilde Molzer
Received June 28, 2000; Revised manuscript accepted October 3, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #188 (2000) Online
Print Citation: Volume 16, Issue 6, page 534

Novel variants in 3 kb of 5þUTR of the b1-adrenergic receptor gene (“93C>T, “210C>T, and “2146T>C): “2146C homozygotes present in patients with idiopathic dilated cardiomyopathy and coronary heart disease
Katrin Wenzel, Stephan B. Felix, David Bauer, Petra Heere, Christina Flachmeier, Svenia Podlowski, Karla K•pke, and Margret R. Hoehe
Received August 17, 2000; Revised manuscript accepted October 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #187 (2000) Online
Print Citation: Volume 16, Issue 6, page 534

Novel silent variant (c1722G>A) in the coding region of the insulin receptor substrate 1 (IRS1) gene
Patrick Kloos, Susanne Mergenthaler, Michael B. Ranke, Hartmut A. Wollmann, and Thomas Eggermann
Received August 9, 2000; Revised manuscript accepted October 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #186 (2000) Online
Print Citation: Volume 16, Issue 6, page 533

A novel mutation E179K of the MEN1 gene predisposes for Multiple Endocrine Neoplasia-type 1 (MEN1)
Andreas Weinhaeusel, Heinrich Vierhapper, Robert Schlegl, Theresa Wagner, Daniela Muhr, Christian Scheuba, Bruno Niederle, and Oskar A. Haas
Received June 28, 2000; Revised manuscript accepted September 28, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #185 (2000) Online
Print Citation: Volume 16, Issue 6, page 533

TIGR/MYOC proximal promoter GT-repeat polymorphism is not associated with myopia
Yuk-Fai Leung, Pancy Oi-Sin Tam, Larry Baum, Dennis Shun-Chiu Lam, and Calvin Chi-Pui Pang
Received August 9, 2000; Revised manuscript accepted September 25, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #184 (2000) Online
Print Citation: Volume 16, Issue 6, page 533

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient
Manuela Seia, Angelo Cant¸-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Alessandra Bassotti, G. Pizzamiglio, Annamaria Giunta, and Rita Padoan
Received August 17, 2000; Revised manuscript accepted September 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #183 (2000) Online
Print Citation: Volume 16, Issue 6, pages 532-533

Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms
Cëcile Batandier, Aleth Picard, Nadine Tessier, and Joïl Lunardi
Received August 14, 2000; Revised manuscript accepted September 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #182 (2000) Online
Print Citation: Volume 16, Issue 6, page 532

Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria
Adriana De Siervi, Victoria E. Parera, Alcira M del C Batlle, and Marìa V. Rossetti
Received July 7, 2000; Revised manuscript accepted September 19, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #181 (2000) Online
Print Citation: Volume 16, Issue 6, page 532

Molecular analysis of the TFR2 gene: report of a novel polymorphism (1878C>T)
Mirella Meregalli, Andrea Pellagatti, Elena Bissolotti, Anna Ludovica Fracanzani, Silvia Fargion, and Maurizio Sampietro
Received August 6, 2000; Revised manuscript accepted September 18, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #180 (2000) Online
Print Citation: Volume 16, Issue 6, page 532

A novel polymorphism (g722G>A) in exon2 of the AVPR2 gene
Yun Kyung Lee and Hae Il Cheong
Received June 29, 2000; Revised manuscript accepted September 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #179 (2000) Online
Print Citation: Volume 16, Issue 5, page 450

Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population
F. Belmahdi, D. Chevalier, J.M. Lo-Guidice, D. Allorge, C. Cauffiez, JJ. Lafitte, and F. Broly
Received June 29, 2000; Revised manuscript accepted September 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #178 (2000) Online
Print Citation: Volume 16, Issue 5, page 450

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor a4 subunit gene, CHRNA4
Hidetaka Akiyoshi, Hiromi Iwata, Goryu Fukuma, Minako Yonetani, Kazumaru Wada, Sunao Kaneko, Akihisa Mitsudome, and Shinichi Hirose
Received June 11, 2000; Revised manuscript accepted September 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #177 (2000) Online
Print Citation: Volume 16, Issue 5, page 450

Identification of a novel mutation C144F in the Notch3 gene in an Australian CADASIL pedigree
Rachel Grigg, Rod Lea, A.A. Sullivan, Robert Curtain, John MacMillian, and Lyn Griffiths
Received July 8, 2000; Revised manuscript accepted September 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #176 (2000) Online
Print Citation: Volume 16, Issue 5, pages 449-450

Identification of a novel nonsense mutation (Q24X) in the glucose-6-phosphatase gene of a Portuguese patient with GSD Ia (von Gierke disease)
Hugo Rocha, Aguinaldo Cabral, and Laura Vilarinho
Received May 11, 2000; Revised manuscript accepted June 2, 2000
(This article was accepted in June 2000, but publication was delayed; hence the break from chronological order.)
Online Citation: Human Mutation , Mutation and Polymorphism Report #175 (2000) Online
Print Citation: Volume 16, Issue 5, page 449

Identification of two polymorphisms (c189G>C; c190T>C) in exon 2 of the human MRP6 gene (ABCC6) by screening of pseudoxanthoma elasticum patients: possible sequence correction?
Dominique P. Germain, Veronique Remones, Jerome Perdu, and Xavier Jeunemaitre
Received May 25, 2000; Revised manuscript accepted August 28, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #174 (2000) Online
Print Citation: Volume 16, Issue 5, page 449

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis
Fuu-Jen Tsai, Chi-Fan Yang, Jer-Yuarn Wu, Hui-Ju Lin, Cheng-Chun Lee, and Chang-Hai Tsai
Received July 8, 2000; Revised manuscript accepted August 22, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #173 (2000) Online
Print Citation: Volume 16, Issue 5, page 449

Two 3' polymorphisms in DLX5: g126427delTATC and g126249TA C
P.S. Hart, M.D. Michalec, .J.T. Wright, and T.C. Hart
Received July 17, 2000; Revised manuscript accepted August 22, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #172 (2000) Online
Print Citation: Volume 16, Issue 5, page 448

Identification of a polymorphism (G83S) in the TWIST gene in Taiwanese
Chi-Fan Yang, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee, and Wei-De Lin
Received July 20, 2000; Revised manuscript accepted August 22, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #171 (2000) Online
Print Citation: Volume 16, Issue 5, page 448

Wiskott-Aldrich syndrome in an Israeli family: identification of a novel G40V mutation
M. Rottem, S. Alon-Shalev, Y. Shneor, and Y. Hujeirat
Received July 13, 2000; Revised manuscript accepted August 18, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #170 (2000) Online
Print Citation: Volume 16, Issue 5, page 448

Genetic variants in the promoter (g983G>T) and coding region (A92T) of the human cardiotrophin-1 gene (CTF1) in patients with dilated cardiomyopathy
Jeanette Erdmann, Sabine Hassfeld, Heike Kallisch, Eckart Fleck, and Vera Regitz-Zagrosek
Received July 10, 2000; Revised manuscript accepted August 17, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #169 (2000) Online
Print Citation: Volume 16, Issue 5, pages 448

A novel germline mutation, P48T, in the CDKN2A/p16 gene in a patient with pancreatic carcinoma
Patrick S. Moore, Giuseppe Zamboni, Massimo Falconi, Claudio Bassi, and Aldo Scarpa
Received June 5, 2000; Revised manuscript accepted August 15, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #168 (2000) Online
Print Citation: Volume 16, Issue 5, pages 447-448

A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease)
Mei-Chen Wu, Fuu-Jen Tsai, Cheng-Chun Lee, Chang-Hai Tsai, and Jer-Yuarn Wu
Received June 8, 2000; Revised manuscript accepted August 15, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #167 (2000) Online
Print Citation: Volume 16, Issue 5, page 447

Transthyretin Ile84Thr is associated with familial amyloid polyneuropathy
D.R. Booth, A. Stangou, R.S. Williams , J.D.Gillmore, G.A. Tennent, and P.N. Hawkins
Received June 7, 2000; Revised manuscript accepted August 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #166 (2000) Online
Print Citation: Volume 16, Issue 5, page 447

A new case of alpha-1-antitrypsin frameshift mutation (1123insT) causing severe deficiency and emphysema
Delphine Feldmann, Martin Bard, Corinne Chauve, and Remy Couderc
Received February 16, 2000; Revised manuscript accepted April 14, 2000
(This article was accepted in April 2000, but publication was delayed; hence the break from chronological order.)
Online Citation: Human Mutation , Mutation and Polymorphism Report #165 (2000) Online
Print Citation: Volume 16, Issue 5, page 447

Identification of a novel polymorphism (IVS45 20 C/A) in the splice site of intron 45 of the ryanodine receptor gene (RYR1)
H. Rueffert, D. Olthoff, C. Deutrich, H. Kraus, and U.G. Froster
Received May 12, 2000; Revised manuscript accepted August 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #164 (2000) Online
Print Citation: Volume 16, Issue 4, page 376

Metachromatic leukodystrophy: A novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation
Laura Gort, M. Josep Coll, and Amparo Chabás
Received July 17, 2000; Revised manuscript accepted August 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #163 (2000) Online
Print Citation: Volume 16, Issue 4, pages 375-376

Novel single nucleotide polymorphisms (3203A>G and 3204C>T) in the 3' end of the mitochondrial 16S rRNA gene
Tao Yang, Ching-Wan Lam, Man-Wo Tsang, Sui-Fan Tong, Lisa Y.S. Chan, Grace Y.W. Kam, Priscilla M.K. Poon , Xiang-Qian Wu, and Chi-Pui Pang
Received July 7, 2000; Revised manuscript accepted August 1, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #162 (2000) Online
Print Citation: Volume 16, Issue 4, page 375

A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone
Ytje Y. van der Hoek, M.W.F. Mul “ Steinbusch, and P.H.Th.J. Slee
Received May 25, 2000; Revised manuscript accepted July 31, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #161 (2000) Online
Print Citation: Volume 16, Issue 4, page 375

Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene
Judy R. Pipo, Toshiyuki Yamamoto, Hiromasa Takeda, Shinji Maegawa, Eiji Nanba, Haruaki Ninomiya, Kousaku Ohno, and Kenzo Takeshita
Received May 29, 2000; Revised manuscript accepted July 26, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #160 (2000) Online
Print Citation: Volume 16, Issue 4, page 375

Five novel genetic variants in the promoter and coding region of the B-crystallin gene (CRYAB): “652G>A, “650C>G, “249G>C, S41Y, P51L
Axel Hahner, Jeanette Erdmann, Heike Kallisch, Eckart Fleck, and Vera Regitz-Zagrosek
Received May 30, 2000; Revised manuscript accepted July 25, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #159 (2000) Online
Print Citation: Volume 16, Issue 4, page 374

Homozygous familial hypercholesterolemia: a novel point mutation (W556R) in a Turkish patient
Bertha Gutierrez, Andrea Schneider, Jared Jobs, Hartmut Schmidt, Andrea Korte, Michael P. Manns, and Manfred Stuhrmann Received June 8, 2000; Revised manuscript accepted July 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #158 (2000) Online
Print Citation: Volume 16, Issue 4, page 374

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 — a challenging problem
Melanie A. Knight, Elsdon Storey, R. J. McKinlay Gardner, Peter Hand, and Susan M. Forrest
Received June 27, 2000; Revised manuscript accepted July 13, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #157 (2000) Online
Print Citation: Volume 16, Issue 4, page 374

Novel single nucleotide polymorphisms (SNPs) at positions 497 (T/G) and 829 (T/C) in the human c-FOS gene and haplotype association
Yumiko Umino, Hirohiko Hohjoh, and Katsushi Tokunaga
Received April 13, 2000; Revised manuscript accepted July 10, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #156 (2000) Online
Print Citation: Volume 16, Issue 3, page 279

Novel intronic polymorphisms (IVS6-73A/G and IVS21 124A/G) in the glycogen-debranching enzyme (AGL) gene
Asako Horinishi, Toshio Murase, and Minoru Okubo
Received May 14, 2000; Revised manuscript accepted July 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #155 (2000) Online
Print Citation: Volume 16, Issue 3, page 279

A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus
Manuela Seia, Angelo Cantù-Rajnoldi, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Carlo Corbetta, Alessandra Bassotti, Elena Moretti, Annamaria Giunta, and Rita Padoan
Received March 29, 2000; Revised manuscript accepted June 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #154 (2000) Online
Print Citation: Volume 16, Issue 3, page 279

Three novel mutations, c314C>A, c778insC, and c1285 2T>A, in exon 2 of the Wilson disease gene
Janine Genschel, Grit Sommer, Regina Haas, Carsten Buettner, Bettina Bochow, Michael Manns, Herbert Lochs, and Hartmut H.-J. Schmidt
Received May 17, 2000; Revised manuscript accepted June 16, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #153 (2000) Online
Print Citation: Volume 16, Issue 3, page 278

A heterozygous novel C253Y mutation in the highly conserved cysteine residues of ROM1 gene is the cause of retinitis pigmentosa in a Spanish family?
Carlos Reig, Marìa Martinez-Gimeno, and Miguel Carballo
Received March 13, 2000; Revised manuscript accepted June 13, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #152 (2000) Online
Print Citation: Volume 16, Issue 3, page 278

A new frameshift mutation at codon 466 (1397delA) within the LMNA gene
Janine Genschel, Peter Baier, Susanne Kuepferling, Marcus J. Proepsting, Carsten Buettner, Ralf Ewert, Roland Hetzer, Herbert Lochs, Hartmut H.-J. Schmidt
Received March 24, 2000; Revised manuscript accepted June 9, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #151 (2000) Online
Print Citation: Volume 16, Issue 3, page 278

CuZn-superoxide dismutase gene in sporadic amyotrophic lateral sclerosis patients from Russia: Asp90Ala (D90A) mutation and novel rare polymorphism IVS3 35 A>C
Petr A. Slominsky, Marya I. Shadrina, Ekaterina A. Kondratyeva, Tatiana V. Tupitsina, Gleb N. Levitsky, Veronika I. Skvortsova, and Svetlana A. Limborska
Received March 23, 2000; Revised manuscript accepted June 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #150 (2000) Online
Print Citation: Volume 16, Issue 3, pages 277-278

A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene
Hans Hermann Seydewitz, Tanja Gonska, Marcus Mall, and Joachim Kuehr
Received May 4, 2000; Revised manuscript accepted June 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #149 (2000) Online
Print Citation: Volume 16, Issue 3, page 277

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia
Aldo Giannotti, Alessandra Tessa, Clarice Patrono, Lucia De Florio, Margherita Velardo, Carlo Dionisi-Vici, Enrico Bertini, and Filippo M. Santorelli
Received May 10, 2000; Revised manuscript accepted June 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #148 (2000) Online
Print Citation: Volume 16, Issue 3, page 277

Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree
George Miltiadous, Moses Elisaf , Stavroulla Xenophontos, Panayiotis Manoli, and Marios A. Cariolou
Received April 5, 2000; Revised manuscript accepted June 2, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #147 (2000) Online
Print Citation: Volume 16, Issue 3, page 277

Common polymorphism in p53 intron 2, IVS2 38G>C
Sigitas J. Verselis and Frederick P. Li
Received August 2, 1999; Revised manuscript accepted November 3, 1999
(This article was accepted in November 1999, but publication was delayed; hence the break from chronological order.)
Online Citation: Human Mutation , Mutation and Polymorphism Report #146 (2000) Online
Print Citation: Volume 16, Issue 2, page 181

Two novel germline mutations (Y548X and K732X) of the MLH1 gene in Czech patients with hereditary nonpolyposis colorectal cancer
Jan Hajer, Anna Kepelová, Zdena Zádorová, and Milan Kment
Received April 11, 2000; Revised manuscript accepted May 24, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #145 (2000) Online
Print Citation: Volume 16, Issue 2, page 181

A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: First reported Korean case
Eun-Ha Lee, Jae-Hyun Park, Chang-Jun Coe, and Si-Houn Hahn
Received March 7, 2000; Revised manuscript accepted May 24, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #144 (2000) Online
Print Citation: Volume 16, Issue 2, pages 180-181

A novel variant of human lysozyme (T70N) is common in the normal population
David R. Booth, Mark B. Pepys, and Philip N. Hawkins
Received March 21, 2000; Revised manuscript accepted May 23, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #143 (2000) Online
Print Citation: Volume 16, Issue 2, page 180

Transthyretin Ala97Ser is associated with familial amyloidotic polyneuropathy in a Chinese-Taiwanese family
H. J. Lachmann, D. R. Booth, A. Bybee, and P. N. Hawkins
Received March 16, 2000; Revised manuscript accepted May 23, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #142 (2000) Online
Print Citation: Volume 16, Issue 2, page 180

A new polymorphism, g119A>G, in the integrin alpha 7 (ITGA7) gene
Doroti Pirulli , Silvia Zezlina , Laura Vatta, Paola Di Stefano, Michele Boniotto, Guido Tarone, Tiziana Mongini , Isabella Ugo, Laura Palmucci , Antonio Amoroso, and Sergio Crovella
Received April 18, 2000; Revised manuscript accepted May 17, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #141 (2000) Online
Print Citation: Volume 16, Issue 2, page 180

A novel mutation (1320InsT) identified in two Argentine families with Variegate Porphyria
Adriana De Siervi, Victoria E. Parera, Laura S. Varela, Alcira M. del C Batlle, and María V. Rossetti
Received March 13, 2000; Revised manuscript accepted May 8, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #140 (2000) Online
Print Citation: Volume 16, Issue 1, page 96

Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA
Ruby C. Y. Lin and Brian J. Morris
Received February 29, 2000; Revised manuscript accepted April 27, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #139 (2000) Online
Print Citation: Volume 16, Issue 1, page 96

Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients
S. Mergenthaler, N. Blagitko-Dorfs, H.A. Wollmann, M.B. Ranke, H.H. Ropers, V.M. Kalscheuer, and T. Eggermann
Received February 17, 2000; Revised manuscript accepted April 27, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #138 (2000) Online
Print Citation: Volume 16, Issue 1, page 96

Three novel mutations (P215L, T289P, and 3811-2 A G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families
María Martinez-Gimeno, María José Trujillo, Isabel Lorda, Ascensión Gimenez, María Teresa Calvo, Carmen Ayuso, and Miguel Carballo
Received February 23, 2000; Revised manuscript accepted April 25, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #137 (2000) Online
Print Citation: Volume 16, Issue 1, pages 95-96

Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis
Marie- Noëlle Feuillet-Fieux, Isabelle Sermet, Aleksander Edelman, Tania Torossi, Magali Ferrec, Marcel Guillot, Gérard Lenoir, Jean-Paul Bonnefont, and Laure Thuillier
Received February 22, 2000; Revised manuscript accepted April 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #136 (2000) Online
Print Citation: Volume 16, Issue 1, page 95

A novel missense mutation (L198R) in the Friedreich's ataxia gene
Sahar Al-Mahdawi, Mark Pook, and Susan Chamberlain
Received March 3, 2000; Revised manuscript accepted April 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #135 (2000) Online
Print Citation: Volume 16, Issue 1, page 95

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease
G. Raux, R. Gantier, C. Martin, Y. Pothin, A. Brice, T. Frebourg, and D. Campion
Received February 2, 2000; Revised manuscript accepted April 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #134 (2000) Online
Print Citation: Volume 16, Issue 1, page 95

Identification of a novel truncating mutation (S171X) in the emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy
Caroline C. Menache, Charlotte A. Brown, Joseph H. Donnelly, Frederic Shapiro, and Basil T. Darras
Received February 17, 2000; Revised manuscript accepted April 11, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #133 (2000) Online
Print Citation: Volume 16, Issue 1, page 94

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b
Ching-Wan Lam, Kwok-Yin Chan, Sui-Fan Tong, Bik-Yan Chan, Yuk-Tat Chan, and Yan-Wo Chan
Received March 7, 2000; Revised manuscript accepted April 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #132 (2000) Online
Print Citation: Volume 16, Issue 1, page 94

A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy
Eeva-Marja Sankila, Tarja H. Joensuu, Riikka H. Hämäläinen, Nina Raitanen, Olavi Valle, Jaakko Ignatius, and Bru Cormand
Received February 24, 2000; Revised manuscript accepted April 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #131 (2000) Online
Print Citation: Volume 16, Issue 1, page 94

Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia
Kyeong-Man Hong, Si-Houn Hahn, and Moon-Kee Paik
Received February 7, 2000; Revised manuscript accepted March 29, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #130 (2000) Online
Print Citation: Volume 15, Issue 6, page 585

Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome
Abdelhamid Barakat, Mouna Ababou, Rosine Onclercq, Stéphanie Dutertre, ElBekkay Chadli, Nezha Hda, Abdellah Benslimane, and Mounira Amor-Guéret
Received February 8, 2000; Revised manuscript accepted March 27, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #129 (2000) Online
Print Citation: Volume 15, Issue 6, pages 584-585

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome
Sabine Jahr, Thorsten Lewalter, Rolf-Dieter Hesch, Berndt Lüderitz, and Sabine Englisch
Received January 24, 2000; Revised manuscript accepted March 23, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #128 (2000) Online
Print Citation: Volume 15, Issue 6, page 584

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa
Li Liu, Lei Jin, Mugen Liu, Yong Wei, Xuejun Wu, Ye Liu, Youe Liu, Honghai Wang, Renyuan Chu, and Jianhua Chai
Received February 28, 2000; Revised manuscript accepted March 23, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #127 (2000) Online
Print Citation: Volume 15, Issue 6, page 584

Novel cardiac -myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy
Ryuichiro Anan, Hirohisa Shono, and Chuwa Tei
Received February 16, 2000; Revised manuscript accepted March 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #126 (2000) Online
Print Citation: Volume 15, Issue 6, page 584

W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa
Corinne Bareil, Valérie Delague, Bernard Arnaud, Jacques Demaille, Christian Hamel, and Mireille Claustres
Received February 7, 2000; Revised manuscript accepted March 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #125 (2000) Online
Print Citation: Volume 15, Issue 6, pages 583-584

Identification of a polymorphism (D366H) in the endoglin gene in Chinese
Wei-De Lin, Fuu-Jen Tsai, Cheng-Chun Lee, and Jer-Yuarn Wu
Received January 31, 2000; Revised manuscript accepted March 16, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #124 (2000) Online
Print Citation: Volume 15, Issue 6, page 583

A novel complex mutation in exon 8 of RB1 in a case of isolated bilateral retinoblastoma
Javier Alonso, Purificación García-Miguel, José Abelairas, and Angel Pestaña
Received January 28, 2000; Revised manuscript accepted March 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #123 (2000) Online
Print Citation: Volume 15, Issue 6, page 583

Human beta defensin 1 gene: six new variants
Serena Vatta, Michele Boniotto, Elena Bevilacqua, Anna Belgrano, Doroti Pirulli, Sergio Crovella, and Antonio Amoroso
Received January 24, 2000; Revised manuscript accepted March 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #122 (2000) Online
Print Citation: Volume 15, Issue 6, pages 582-583

Identification of 3 novel mutations (Y4236X, Q3820X, 11745 2 ins3) in autosomal dominant polycystic kidney disease 1 gene (PKD1)
R. Perrichot, B. Mercier, A. Carre, J. Cledes, and C. Ferec
Received December 22, 1999; Revised manuscript accepted March 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #121 (2000) Online
Print Citation: Volume 15, Issue 6, page 582

A novel deletion (IVS11 3del4) identified in the human PAX6 gene in a patient with aniridia
Nicola J. Murton, Ishtiaq Rehman, Graeme C. M. Black, Chris F. Inglehearn, and Amanda J. Churchill
Received December 22, 1999; Revised manuscript accepted March 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #120 (2000) Online
Print Citation: Volume 15, Issue 6, page 582

Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients
Patrick S. Moore, Davide Antonello, Guido Martignoni, Chiara Racchini, Maurizio Ventrucci, and Aldo Scarpa
Received January 18, 2000; Revised manuscript accepted March 14, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #119 (2000) Online
Print Citation: Volume 15, Issue 6, page 582

Novel intronic polymorphism ( 1675G/A) in the human angiotensin II subtype 2 receptor gene
Jeanette Erdmann, Marco Guse, Heike Kallisch, Eckart Fleck, and Vera Regitz-Zagrosek
Received January 26, 2000; Revised manuscript accepted March 3, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #118 (2000) Online
Print Citation: Volume 15, Issue 5, page 487

Two novel mutations in the WASP gene in Wiskott-Aldrich patients of Chile origin: W64R and A124E
Cristina Fillat, Teresa Español, Marta Oset, Mirta Cavieres, Patricia dal Borgo, Xavier Estivill, and Victor Volpini
Received January 12, 2000; Revised manuscript accepted March 3, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #117 (2000) Online
Print Citation: Volume 15, Issue 5, page 487

Three novel somatic mutations in the NF2 tumor suppressor gene [g816T>A; g1159A>G; gIVS11-1G>T]
César Paz-y-Miño and Paola E. Leone
Received January 20, 2000; Revised manuscript accepted March 1, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #116 (2000) Online
Print Citation: Volume 15, Issue 5, page 487

A new polymorphism (N21D) in the exon 2 of the human MDR1 gene encoding the P-glycoprotein
Xavier Declèves, Sylvie Chevillard, Charlotte Charpentier, Philippe Vielh, and Jean-Louis Laplanche
Received January 12, 2000; Revised manuscript accepted February 16, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #115 (2000) Online
Print Citation: Volume 15, Issue 5, page 486

A novel missense mutation (Y89C) in exon 3 of the CFTR (ABCC7) gene in a young male
Rita Padoan, Diana Costantini, Maria Chiara Russo, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù-Rajnoldi, Manuela Seia, and Annamaria Giunta
Received December 17, 1999; Revised manuscript accepted February 17, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #114 (2000) Online
Print Citation: Volume 15, Issue 5, page 486

Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene
Sandrine Vuillaumier-Barrot, Christiane Le Bizec, Geneviève Durand, Bernard Grandchamp, and Nathalie Seta
Received November 15, 1999; Revised manuscript accepted February 16, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #113 (2000) Online
Print Citation: Volume 15, Issue 5, page 486

Two novel polymorphisms, c1086T>C and c1798C>T, in the MADH4/DPC4 gene
Patrick S. Moore, Gildas Rigaud, Antonella Baron, and Aldo Scarpa
Received January 12, 2000; Revised manuscript accepted February 10, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #112 (2000) Online
Print Citation: Volume 15, Issue 5, pages 485-486

A novel missense mutation (D110E) in exon 4 of CFTR (ABCC7) in a CF infant presenting with hypochloraemic metabolic alkalosis
Rita Padoan, Alessandra Bassotti, Manuela Seia, Antonella Ambrosioni, Sabrina Fiori, Silvia Prandoni, Angelo Cantù Rajnoldi, Annamaria Giunta, and Carlo Corbetta
Received December 17, 1999; Revised manuscript accepted February 10, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #111 (2000) Online
Print Citation: Volume 15, Issue 5, page 485

A new BRCA1 germline mutation (E879X) in a Malaysian breast cancer patient of Chinese descent
A.S.B. Khoo, P. Balraj, L. Volpi, and S.Nair
Received June 16, 1999; Revised manuscript accepted February 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #110 (2000) Online
Print Citation: Volume 15, Issue 5, page 485

Severe cystic fibrosis in a Japanese girl caused by two novel CFTR (ABCC7) gene mutations: M152R and 1540del10
Nasa Morokawa, Sayoko Iizuka, Akihide Tanano, Atsushi Katsube, Toshihiro Muraji, Yoshikatsu Eto, and Kunihiko Yoshimura
Received November 30, 1999; Revised manuscript accepted February 3, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #109 (2000) Online
Print Citation: Volume 15, Issue 5, page 485

An R223P mutation in EXT2 gene causes hereditary multiple exostoses
Yi-Ru Shi, Jer-Yuarn Wu, Fuu-Jen Tsai, Cheng-Chun Lee, and Chang-Hai Tsai
Received November 11, 1999; Revised manuscript accepted January 28, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #108 (2000) Online
Print Citation: Volume 15, Issue 4, pages 390-391

A novel missense mutation, S1159F, in exon 19 of the CFTR gene
Hans Hermann Seydewitz, Marcus Mall, and Joachim Kuehr
Received November 3, 1999; Revised manuscript accepted January 28, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #107 (2000) Online
Print Citation: Volume 15, Issue 4, page 390

Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics
William L. Gitomer, Berenice Y. Reed, and Charles Y.C. Pak
Received January 3, 2000; Revised manuscript accepted January 21, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #106 (2000) Online
Print Citation: Volume 15, Issue 4, page 390

Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease)
Mei-Chen Wu, Fuu-Jen Tsai, Cheng-Chun Lee, Shuan-Pei Lin, and Jer-Yuarn Wu
Received December 30, 1999; Revised manuscript accepted January 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #105 (2000) Online
Print Citation: Volume 15, Issue 4, page 390

A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
Jer-Yuarn Wu, Chi-Fan Yang, Cheng-Chun Lee, Jan-Gowth Chang, and Fuu-Jen Tsai
Received December 30, 1999; Revised manuscript accepted January 20, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #104 (2000) Online
Print Citation: Volume 15, Issue 4, pages 389-390

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease
Gloria Bonuccelli, Mirella Filocamo, Stefano Regis, Fabio Corsolini, Raffaella Mazzotti, and Rosanna Gatti
Received December 26, 1999; Revised manuscript accepted January 19, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #103 (2000) Online
Print Citation: Volume 15, Issue 4, page 389

Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome
Melissa Little, Gregory Carman and Eric Donaldson
Received December 16, 1999; Revised manuscript accepted January 7, 2000
Online Citation: Human Mutation , Mutation and Polymorphism Report #102 (2000) Online
Print Citation: Volume 15, Issue 4, page 389

A novel polymorphism (219G>A) in the transferrin receptor gene
Mirella Meregalli, Noemi Corbetta, Andrea Pellagatti, Franco Martinez di Montemuros, Dario Tavazzi, Silvia Fargion, and Maurizio Sampietro
Received November 30, 1999; Revised manuscript accepted December 28, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #101 (2000) Online
Print Citation: Volume 15, Issue 4, page 389

Identification of a new polymorphism (c134G>A) in the exon 2 of the myelin protein zero gene
M. Muglia, A. Toscano, A.L. Gabriele, A. Magariello, A. Patitucci, F.L. Conforti, R. Mazzei, C. Rodolico, A. Gambardella, and A. Quattrone
Received October 28, 1999; Revised manuscript accepted December 16, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #100 (1999) Online
Print Citation: Volume 15, Issue 3, page 299

Identification of a novel large F9 gene mutation — an insertion of an Alu repeated DNA element in exon e of the factor 9 gene
K. Wulff, H. Gazda, W. Schr•der, R. Robicka-Milewska, and F.H. Herrmann
Received September 3, 1999; Revised manuscript accepted December 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #99 (1999) Online
Print Citation: Volume 15, Issue 3, page 299

A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac -myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
Sadayappan Sakthivel, Pulavelil Kurian Joseph, Jagan Mohan Tharakan, Hans-Peter Vosberg, and Chellam Rajamanickam
Received October 5, 1999; Revised manuscript accepted December 9, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #98 (1999) Online
Print Citation: Volume 15, Issue 3, pages 298-299

A novel DNA polymorphism (4886C>T) in the human LCAT gene
Delia Recalde, Ana Cenarro, Fernando Civeira, Angel-Luis Garcia-Otin, and Miguel Pocovi
Received October 1, 1999; Revised manuscript accepted December 8, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #97 (1999) Online
Print Citation: Volume 15, Issue 3, page 298

Polymorphism (g2035C>T) in the amelogenin gene
P.S. Hart, A.C. Vlaservich, T.C. Hart, and J.T. Wright
Received September 10, 1999; Revised manuscript accepted December 7, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #96 (1999) Online
Print Citation: Volume 15, Issue 3, page 298

The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome
Masahiko Ikebuchi, Toshiyuki Yamamoto, Hiroki Chikumi, Yoshiyuki Tanaka, Eiji Nanba, Hiroaki Kuroda, and Shigetsugu Ohgi
Received October 8, 1999; Revised manuscript accepted December 7, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #95 (1999) Online
Print Citation: Volume 15, Issue 3, page 298

A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?
M.E. Sáez , A. Ruiz , A. Cebrián, F. Morales, M. Robledo, G. Antiñolo, and S. Borrego
Received July 14, 1999; Revised manuscript accepted November 4, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #94 (1999) Online
Print Citation: Volume 15, Issue 1, page 122

Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia
Martin Gencik, Alexandra Gencik, Wilhelm Mortier, and J•rg T. Epplen
Received September 15, 1999; Revised manuscript accepted November 5, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #93 (1999) Online
Print Citation: Volume 15, Issue 1, page 122

A novel polymorphism (g1344G>C ) in exon 2 of the CD14 gene
Catherine M. Hayden, Jack Goldblatt, and Peter N.LeSouef
Received August 12, 1999; Revised manuscript accepted November 1, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #92 (1999) Online
Print Citation: Volume 15, Issue 1, page 122

Novel TIGR sequence alteration Val53Ala
C. P. Pang, Y. F. Leung, John K. H. Chua, Larry Baum, Dorothy S. P. Fan, and Dennis S. C. Lam
Received August 3, 1999; Revised manuscript accepted November 1, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #91 (1999) Online
Print Citation: Volume 15, Issue 1, page 122

A novel alpha-1-antitrypsin R281del variant found in a population sample from the Basque country
Susana Seixas, Oscar Garcia, António Amorim, and Jorge Rocha
Received August 3, 1999; Revised manuscript accepted November 1, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #90 (1999) Online
Print Citation: Volume 15, Issue 1, pages 121-122

Characterization of three new VNTR alleles in the promoter region of the TPMT gene
Sandra Alves, Fátima Ferreira, Maria João Prata, and António Amorim
Received June 16, 1999; Revised manuscript accepted October 28, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #89 (1999) Online
Print Citation: Volume 15, Issue 1, page 121

Two RFLPs ( Aci I; c954C/T and Fok I; c1023 Fok IT/C) within the coding region of the gene for human Fe65L2, a protein which interacts with Alzheimer beta-amyloid precursor protein
Hiroshi Tanahashi and Takeshi Tabira
Received July 21, 1999; Revised manuscript accepted October 28, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #88 (1999) Online
Print Citation: Volume 15, Issue 1, page 121

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
H. Mittre, J.F. Duhamel ,G. Abeguile, M. Lemaire, and P. Leymarie
Received June 2, 1999; Revised manuscript accepted October 28, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #87 (1999) Online
Print Citation: Volume 15, Issue 1, page 121

A new mitochondrial DNA mutation in the tRNA leucine 1 gene (C3275A) in a patient with Leber's hereditary optic neuropathy
Jose-Raul Garcia-Lozano, Isabel Aguilera, Juan Bautista, and Antonio Nuñez-Roldan
Received July 21, 1999; Revised manuscript accepted October 26, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #86 (1999) Online
Print Citation: Volume 15, Issue 1, pages 120-121

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE
Rachel Bradbury, Elizabeth Fagan, and Stewart J. Payne
Received August 13, 1999; Revised manuscript accepted October 26, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #85 (1999) Online
Print Citation: Volume 15, Issue 1, page 120

A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation
Jaana M. Hartikainen, Mia M. Pirskanen, Airi H. Arffman, Ulla K. Ristonmaa, and Arto J. Mannermaa
Received August 2, 1999; Revised manuscript accepted October 25, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #84 (1999) Online
Print Citation: Volume 15, Issue 1, page 120

The m2 and m4 polymorphisms in CYP1A1 by NcoI digest — revision of detection method
David Israeli, Yael Patael, Tal Friedman, and Eitan Friedman
Received June 20, 1999; Revised manuscript accepted October 19, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #83 (1999) Online
Print Citation: Volume 15, Issue 1, page 120

The homozygous combination of Leu125Val and Ser563Asn polymorphisms in the PECAM1 (CD31) gene is associated with early severe coronary heart disease
Katrin Wenzel, Gert Baumann, and Stefan B. Felix
Received July 15, 1999; Revised manuscript accepted October 11, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #82 (1999) Online
Print Citation: Volume 14, Issue 6, page 545

Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer
JoEllen Dangel, Josephine Wagner-Costalas, Betsy Bove, Lisa Vanderveer, Mark Itzen, Mary Daly, and Andrew K. Godwin
Received May 5, 1999; Revised manuscript accepted September 29, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #81 (1999) Online
Print Citation: Volume 14, Issue 6, page 545

A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene
Isabel Aguilera, José-Raúl García-Lozano, Juan Bautista, Y. Campos, J. Arenas, and Antonio Núñez-Roldán
Received April 9, 1999; Revised manuscript accepted September 28, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #80 (1999) Online
Print Citation: Volume 14, Issue 6, page 545

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]
Nisrine Bissar-Tadmouri, Yesim Gulsen-Parman, Philippe Latour, Feza Deymeer, Piraye Serdaroglu, Antoon Vandenberghe, and Esra Battaloglu
Received June 8, 1999; Revised manuscript accepted September 22, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #79 (1999) Online
Print Citation: Volume 14, Issue 5, page 449

A germline mutation in the von Hippel -Lindau disease gene (L178Q) detected by denaturing gradient gel electrophoresis in a large Jewish -Yemenite family
Orit Jakobovitz-Picard, David Olchovsky, Ofer Nativ, Murray B. Resnick, Gideon Rechavi , Avraham Karasik, and Eitan Friedman
Received August 18, 1999; Revised manuscript accepted September 13, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #78 (1999) Online
Print Citation: Volume 14, Issue 5, page 448

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis
Nicolas Lévy, Rafaëlle Bernard-Bronsard, Anne-Marie Lossi, Laurence Colleaux, Carlos Cardoso, Laurent Villard, and Michel Fontés
Received July 20, 1999; Revised manuscript accepted September 8, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #77 (1999) Online
Print Citation: Volume 14, Issue 5, page 448

A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree
A.S.B. Khoo, P. Balraj, A. Rachedi, C.N. Chin, and L. Volpi
Received June 17, 1999; Revised manuscript accepted August 19, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #76 (1999) Online
Print Citation: Volume 14, Issue 5, page 448

New missense mutation in exon 13 (N789T) of the coagulation factor V gene
H. Kostka, G. Siegert, S. Gehrisch, E. Kuhlisch, E. Runge, and W. Jaross
Received June 7, 1999; Revised manuscript accepted August 5, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #75 (1999) Online
Print Citation: Volume 14, Issue 4, page 357

Heterozygous familial hypercholesterolemia: A new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia
Kurt Widhalm, Christa Iro, Annabell Lindemayr, Helena Schmidt, and Gert Kostner
Received April 18, 1999; Revised manuscript accepted August 2, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #74 (1999) Online
Print Citation: Volume 14, Issue 4, page 357

Identification of a novel mutation (525del T) in exon 4 of the CFTR gene in a patient with cystic fibrosis
Jelena Kušic, Dragica Radojkovic, Harry Cuppens, Martine Jaspers, Jelena Tomic, and Ana Savic
Received July 14, 1999; Revised manuscript accepted July 29, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #73 (1999) Online
Print Citation: Volume 14, Issue 4, page 357

Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia
Larry Baum, C. P. Pang, Dorothy S.P. Fan, Priscilla M.K. Poon, Y.F. Leung, John K.H. Chua, and Dennis S.C. Lam
Received June 15, 1999; Revised manuscript accepted July 21, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #72 (1999) Online
Print Citation: Volume 14, Issue 3, pages 272-273

Mutation profile in the -myosin heavy chain gene in hypertensive hypertrophic heart disease
C.P. Clifford and D.J.R. Nunez
Received March 24, 1999; Revised manuscript accepted July 15, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #71 (1999) Online
Print Citation: Volume 14, Issue 3, page 272

Identification of the new polymorphism IVS1-91 C->T in the beta globin gene
Paola Primignani, Maurizio Travi, Anita Biasi, Federica Sbrocca, Antonio Piga, Paola Scagni, and Angelo Cantù Rajnoldi
Received February 21, 1999; Revised manuscript accepted July 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #70 (1999) Online
Print Citation: Volume 14, Issue 3, page 272

A novel nonsense mutation (Y849X) in the CFTR gene of a CF patient from Southern Italy
Giuseppe Castaldo, Antonella Fuccio, Cécile Cazeneuve, Luigi Picci, Donatello Salvatore, Maurizio Scarpa, Michel Goossens, and Francesco Salvatore
Received June 16, 1999; Revised manuscript accepted July 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #69 (1999) Online
Print Citation: Volume 14, Issue 3, page 272

A novel missense mutation Thr316Ala in lysosomal acid lipase gene in Japanese population
Makoto Nagano, Tadao Iwasaki, Hiroaki Hattori, and Tohru Egashira
Received December 25, 1998; Revised manuscript accepted July 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #68 (1999) Online
Print Citation: Volume 14, Issue 3, page 271

A novel missense mutation Ile193Val in cholesteryl ester transfer protein gene
Makoto Nagano, Mayumi Ito, Yukiko Sagehashi, Hiroaki Hattori, and Tohru Egashira
Received December 25, 1998; Revised manuscript accepted July 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #67 (1999) Online
Print Citation: Volume 14, Issue 3, page 271

A novel frameshift mutation (1651ins5) in exon 10 of the CFTR gene can be misinterpreted as a F508 mutation
Gino Delaere, Karel Stuer, Katrien Storm, Patrick J. Willems, Wim Van Hul
Received May 27, 1999; Revised manuscript accepted June 22, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #66 (1999) Online
Print Citation: Volume 14, Issue 3, page 271

Racial differences in the frequencies of cardiac 1 -adrenergic receptor polymorphisms: Analysis of c145A>G and c1165G>C
J. Donald Moore, Deborah A. Mason, Stuart A. Green, Jenny Hsu, and Stephen B. Liggett
Received June 14, 1999; Revised manuscript accepted June 19, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #65 (1999) Online
Print Citation: Volume 14, Issue 3, page 271

A novel nonsense mutation, S434X, in exon 9 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
H. Mittre, A. Bahlous, N. Leporrier, and P.Leymarie
Received April 14, 1999; Revised manuscript accepted June 11, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #64 (1999) Online
Print Citation: Volume 14, Issue 2, page 182

A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease
Toshiyuki Yamamoto and Eiji Nanba
Received April 12, 1999; Revised manuscript accepted June 3, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #63 (1999) Online
Print Citation: Volume 14, Issue 2, page 182

A novel intragenetic PvuII marker in the human neuronal nicotinic acetylcholine receptor 4 subunit gene (CHRNA4)
Hiromi Iwata, Shinichi Hirose, Hidetaka Akiyoshi, Sunao Kaneko, and Akihisa Mitsudome
Received February 3, 1999; Accepted April 26, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #62 (1999) Online
Print Citation: Volume 14, Issue 1, page 93

Polymorphism (g24914delA) in 5'-upstream region of presenilin 2 (PSEN2) gene
N. Riazanskaya, A. Grogorenko, F. Utenkov, G. Dvoryanchikov, and E.I. Rogaev
Received March 4, 1999; Accepted April 22, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #61 (1999) Online
Print Citation: Volume 13, Issue 6, page 508

A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis
Elizabeth Fagan and Stewart J. Payne
Received January 19, 1999; Accepted April 13, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #60 (1999) Online
Print Citation: Volume 13, Issue 6, pages 507-508

PCR detection of common DNA variation c626T>C in encoding region of presenilin 2 (PSEN2) gene
G.I. Korovaitseva, A. Grigorenko, N. Riazanskaia, and E.I. Rogaev
Received January 6, 1999; Accepted April 13, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #59 (1999) Online
Print Citation: Volume 13, Issue 6, page 507

A neutral polymorphism (c1088C>T) in the estrogen receptor detected by DGGE
Michael Eckstein, Iris Vered, Avraham Karasik, and Eitan Friedman
Received February 13, 1999; Accepted March 31, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #58 (1999) Online
Print Citation: Volume 13, Issue 6, page 507

Identification of a novel missense mutation (G149E) in the glucose-6-phosphate translocase gene in a Chinese family with glycogen storage disease 1b
Ching-Wan Lam, Sui-Fan Tong, Yuen-Yu Lam, Bik-Yan Chan, Chun-Hung Ma, and Pak-Leong Lim
Received January 5, 1999; Accepted March 26, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #57 (1999) Online
Print Citation: Volume 13, Issue 6, page 507

An 11-bp deletion in exon 10 (c1295del11) of WASP responsible for Wiskott-Aldrich syndrome
Siu-Yuen Chan, Yuk-Fan Hui, and Yu-Lung Lau
Received December 14, 1998; Accepted March 23, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #56 (1999) Online
Print Citation: Volume 13, Issue 6, page 507

A missense mutation (W155R) in an American patient with Friedreich ataxia
Malgorzata Labuda, Josee Poirier, and Massimo Pandolfo
Received December 16, 1998; Accepted March 16, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #55 (1999) Online
Print Citation: Volume 13, Issue 6, page 506

A novel missense mutation, R70W, in the human uncoupling protein 3 gene in a family with Type 2 diabetes
A.M. Brown, S.M. Willi, G. Argyropoulos, and W.T. Garvey
Received December 15, 1998; Accepted March 15, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #54 (1999) Online
Print Citation: Volume 13, Issue 6, page 506

A novel splice site mutation (IVS17 -2A>C) associated with Hermansky-Pudlak Syndrome
Scott C. Wildenberg, James P. Fryer, William S. Oetting, and Richard A. King
Received January 6, 1999; Accepted March 14, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #53 (1999) Online
Print Citation: Volume 13, Issue 6, page 506

A novel germline mutation at exon 7 of the MSH2 gene (1249delG) in a large HNPCC Brazilian kindred
Cassandra M. Corvello, Roberta A.U. Bevilacqua, Benedito M. Rossi , and Andrew J.G. Simpson
Received November 16 1998; Accepted March 30, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #52 (1999) Online
Print Citation: Volume 13, Issue 6, page 506

Alpha2-HS glycoprotein (getuin) deficiency in a heterozygote of 4452A>T
Motoki Osawa, Lotte Henke, Kazuo Umetsu, and Jürgen Henke
Received September 2 1998; Accepted February 26, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #51 (1999) Online
Print Citation: Volume 13, Issue 5, page 415

A novel alpha-1-antitrypsin P362H variant found in a population sample from Sâo Tomë e Prìncipe (Gulf of Guinea, West Africa).
Susana Seixas, M. Jesus Trovoada, M. Teresa Santos, and Jorge Rocha
Received January 6, 1999; Accepted February 23, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #50 (1999) Online
Print Citation: Volume 13, Issue 5, page 414

Homozygous state for a new single bp-deletion (g.787delA) in exon 5 of the glucose-6-phosphatase gene in a patient with early onset of glycogen storage disease type 1a
M.Linnebank , B. Rapp , A. Homberger, C. Winter, T. Marquardt, U. KÆnzel, and H.G. Koch
Received January 26, 1999; Accepted February 22, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #49 (1999) Online
Print Citation: Volume 13, Issue 5, page 414

Homozygous mutation 341delG/101X of the glucose-6-phosphatase (G6PC) gene causes glycogen storage disease type Ia (von Gierke disease) in a Chinese patient
Tsang-Ming Ko, Zhi-Cheng Liang, Yu-Wan Lin, and Wuh-Liang Hwu
Received June 16, 1998; Accepted February 17, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #48 (1999) Online
Print Citation: Volume 13, Issue 5, page 414

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele.
Grace Gathungu, Hung Jeff Kim, and Robert J. Morell
Received September 30, 1998; Accepted December 18, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #47 (1999) Online
Print Citation: Volume 13, Issue 5, page 414

Apo A-IMiyagi(947delA): A novel deletion in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia
Shigeo Kure, Dian-Chang Hou, Michinori Sato, Yoichi Matsubara, and Kuniaki Narisawa
Received January 7, 1999; Accepted February 2, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #46 (1999) Online
Print Citation: Volume 13, Issue 4, page 341

A novel -27A>G point mutation in the beta globin gene
Silvia Fattore, Maurizio Travi, Paola Primignani, Anita Biasi, Federica Sbrocca, Nadia Mirra, Roberta Ghilardi, and Angelo Cantù Rajnoldi
Received December 27, 1998; Accepted January 22, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #45 (1999) Online
Print Citation: Volume 13, Issue 4, page 340

A novel BRCA1 mutation (1099 delCA stop codon 328) linked to breast and/or ovarian cancer
Gianfranco Voglino, Cinzia Pera, Gianbattista Ferrara, Lorenzo Silengo, Guglielmo Stefanuto, Antonella Marongiu, and Luciano Fessia
Received December 9, 1998; Accepted January 19, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #44 (1999) Online
Print Citation: Volume 13, Issue 4, page 340

Corrigendum: Novel single base polymorphisms and rare sequence variants in the laminin 2-chain coding region detected by RNA/SSCP analysis
Shirly G. Panicker, Joshua T. Mendell, Lei Chen, Bo Feng, Zarife Sahenk, George A. Marzluf, Anthony A. Amato, and Jerry R. Mendell
Received May 20, 1998; Accepted December 8, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #43 (1999) Online
Link to original article
Print Citation: Volume 13, Issue 4, page 340

A novel missense mutation 14259 G>A in the mitochondrial NADH dehydrogenase 6 gene (MTND6)
Isabel Aguilera, José-Raúl García-Lozano, Juan Bautista, and Antonio Núñez-Roldán
Received November 19, 1998; Accepted January 5, 1999
Online Citation: Human Mutation , Mutation and Polymorphism Report #42 (1999) Online
Print Citation: Volume 13, Issue 3, page 259

A novel nonsense mutation (Q57X) of GJB2 in a deaf individual who is a compound heterozygote for the 30delG allele
Grace Gathungu, Hung Jeff Kim, and Robert J. Morell
Received September 30, 1998; Accepted December 17, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #41 (1999) Online
Print Citation: Volume 13, Issue 3, page 259

A novel 5-bp deletion in exon 30 of the Neurofibromatosis type 1 (NF1) gene
Anja Harder, Carmen Macsuga, Sigrid Tinschert, Peter Nürnberg, and Hartmut Peters
Received September 24, 1998; Accepted December 16, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #40 (1999) Online
Print Citation: Volume 13, Issue 3, page 259

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1
Pierre-André Duval, Françoise Marlhens, Jean-Michel Griffoin, Pierre Millet, Bernard Arnaud, and Christian P. Hamel
Received November 19, 1998; Accepted December 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #39 (1999) Online
Print Citation: Volume 13, Issue 3, page 259

Novel single base polymorphisms and rare sequence variants in the laminin 2-chain coding region detected by RNA/SSCP analysis
Shirly G. Panicker, Joshua T. Mendell, Lei Chen, Bo Feng, Zarife Sahenk, George A. Marzluf, Anthony A. Amato, and Jerry R. Mendell
Received May 20, 1998; Accepted December 8, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #38 (1998) Online
Link to corrigendum
Print Citation: Volume 13, Issue 2, page 174

Three novel polymorphisms in the gene responsible for the Hermansky-Pudlak syndrome
Scott C. Wildenberg, James P. Fryer, William S. Oetting, and Richard A. King
Received November 30, 1998; Accepted December 7, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #37 (1998) Online
Print Citation: Volume 13, Issue 2, page 174

Identification of a mutation in the human raloxifene response element of the transforming growth factor- 3 bene
Ki Ok Han, Young Soon Kang, In Gul Moon, Ho Yeon Chung, Hyun Koo Yoon, In Kwon Han, In Myung Yang, and Young Kil Choi
Received March 2, 1998; Accepted November 23, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #36 (1998) Online
Print Citation: Volume 13, Issue 2, page 174

A g5580 T>C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene
Thierry Bienvenu, Dominique Hubert, Daniel Dusser, and Cherif Beldjord
Received February 18, 1998; Accepted October 8, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #35 (1998) Online
Print Citation: Volume 13, Issue 1, page 85

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1
T.G. Markova, S.P. Shevtsov, L.N. Moskolenko, A.A. Lantsov, and E.I. Schwartz
Received July 19, 1998; Accepted September 2, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #34 (1998) Online
Print Citation: Volume 13, Issue 1, page 85

A new L771L polymorphism in the BRCA1 gene frequently found in Southern Italy
Francesco Baudi, Cristina Grandinetti, Barbara Quaresima, PierFrancesco Tassone, Vito Barbieri, Francesco Costanzo, and Salvatore Venuta
Received July 14, 1998; Accepted September 2, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #33 (1998) Online
Print Citation: Volume 13, Issue 1, page 85

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome
Sibylle Jakubiczka, Thomas Bettecken, Markus Stumm, Josef Neulen, and Peter Wieacker
Received June 3, 1998; Accepted August 4, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #32 (1998) Online
Print Citation: Volume 13, Issue 1, page 85

Description of a novel RFLP diallelic polymorphism (-127 BsgI C/G) within the 5' region of insulin gene
Isabelle Fajardy, Jacques Weill, Chantal Stuckens, Pierre-Marie Danzé, and the CCB group
Received July 28, 1998; Accepted August 20, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #31 (1998) Online
Print Citation: Volume 12, Issue 6, page 435

A novel single amino acid substitution in exon 6 of the low-density lipoprotein receptor gene in a Syrian family
Athanasios Vergopoulos, Tarek Bajari, Muhidien Jouma, Atakan Aydin, Sylvia Bähring, Friedrich C. Luft, and Herbert Schuster
Received June 23, 1998; Accepted August 5, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #30 (1998) Online
Print Citation: Volume 12, Issue 5, page 365

A novel mutation in the ligand binding domain of the low-density lipoprotein receptor gene in a Syrian family
Athanasios Vergopoulos, Tarek Bajari, Muhidien Jouma, Atakan Aydin, Sylvia Bähring, Friedrich C. Luft, and Herbert Schuster
Received June 23, 1998; Accepted August 5, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #29 (1998) Online
Print Citation: Volume 12, Issue 5, page 364

A novel point deletion in exon 8 of the low-density lipoprotein receptor gene in a Syrian family
Athanasios Vergopoulos, Tarek Bajari, Muhidien Jouma, Atakan Aydin, Sylvia Bähring, Friedrich C. Luft, and Herbert Schuster
Received June 23, 1998; Accepted August 5, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #28 (1998) Online
Print Citation: Volume 12, Issue 5, page 364

A c.383C>G dimorphism in the human skeletal muscle triadin gene which localises to chromosome 6q22-6q23
Nichole L. Taske, Peter J. Milburn, Juleen A. Cavanaugh, Michael A. Denborough, and Paul S. Foster
Received June 18, 1998; Accepted August 4, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #27 (1998) Online
Print Citation: Volume 12, Issue 5, page 364

A novel missense Arg 278 Pro mutation in the Troponin T gene (TNNT2)
Jeanette Erdmann, Sandra Wischke, Heike Kallisch, Katja Riedel, Monika Heidenreich, Eckart Fleck, Vera Regitz-Zagrosek
Received February 26, 1998; Accepted August 3, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #26 (1998) Online
Print Citation: Volume 12, Issue 5, page 364

Nt g5312 G A: An uncommon allele within 3þUTR of the rhodopsin gene
Agustín Ruiz, Irene Marcos, Salud Borrego, and Guillermo Antiñolo
Received January 8, 1998; Accepted July 14, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #25 (1998) Online
Print Citation: Volume 12, Issue 4, page 291

A novel missense mutation in the human IDUA gene associated with a severe Hurler's phenotype
Dennis W. Bartholomew and Julie McClellan
Received June 3, 1998; Accepted July 1, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #24 (1998) Online
Print Citation: Volume 12, Issue 4, page 291

The human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene (HMGCS2): characterization of an intragenic microsatellite (D1S3752) in French-Canadians and gene mapping with radiation hybrids
Luigi Bouchard, Youssef Boukaftane, Christine Bëtard, Thomas J. Hudson, and Grant A. Mitchell
Received February 14, 1998; Accepted June 11, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #23 (1998) Online
Print Citation: Volume 12, Issue 4, page 291

A BRCA2 mutation 8558delA in an Ashkenazi breast cancer patient
Tieling Wang, Israela Lerer, Tamar Peretz, Michal Sagi, Luna Kaduri, Ayala Hubert, and Dvorah Abeliovich
Received May 11, 1998; Accepted June 5, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #22 (1998) Online
Print Citation: Volume 12, Issue 4, page 291

Recurrence of the Neurofibromatosis type 1 (NF1) mutation R1276X, probably due to interchromosomal gene conversion
Anja Klose, Peter NÆrnberg, Sigrid Tinschert, and Hartmut Peters
Received November 24, 1997; Accepted May 18, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #21 (1998) Online
Print Citation: Volume 12, Issue 4, page 291

Single amino acid substitution in the hormone-binding domain of the androgen receptor in a family with complete androgen insensitivity syndrome (CAIS)
Ingrid Knoke, Sibylle Jakubiczka, Tilman Rohrer, Beat Hanimann, Edmond Werder, and Peter Wieacker
Received May 7, 1998; Accepted May 31, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #20 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

MYF6 mutations resulting in A112S and A90D substitutions in patients with skeletal or cardiac muscle pathology
Birgit Kerst, Andreas Perrot, Karl-Josef Osterziel, Christoph Hübner, and Astrid Speer
Received February 18, 1998; Accepted May 19, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #19 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

A novel mutation and polymorphism in the gene for aspartylglucosaminidase in a non-Finnish family
Dennis W. Bartholomew and Julie McClellan
Received April 28, 1998; Accepted May 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #18 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

A novel mutation in the variably spliced region of the human PLP gene associated with classical Pelizaeus-Merzbacher disease
Dennis W. Bartholomew and Julie McClellan
Received April 28, 1998; Accepted May 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #17 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

A novel missense mutation in the human ornithine transcarbamylase gene
Dennis W. Bartholomew and Julie McClellan
Received April 28, 1998; Accepted May 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #16 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

A novel polymorphism in the leptin gene
Dennis W. Bartholomew and Julie M. McClellan
Received April 28, 1998; Accepted May 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #15 (1998) Online
Print Citation: Volume 12, Issue 3, page 220

Identification of a novel amino acid substitution (R206Q) in the second extracellular loop of the opioid-somatostatin-like receptor gene GPR8
Jin Zeng, Mingfang Liu, Odile Grau, Andre Capron, and George M. Bahr
Received February 21, 1998; Accepted May 8, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #14 (1998) Online
Print Citation: Volume 12, Issue 3, page 219

A novel polymorphism in the pancreatic phospholipase A2
N. Teich, J. Mössner, and V. Keim
Received November 19, 1997; Accepted May 7, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #13 (1998) Online
Print Citation: Volume 12, Issue 3, page 219

A novel complex mutation (2799insA), leading to a frameshift and premature termination of translation (fs938X) in the Adenomatous Polyposis Coli gene
Bernd Dworniczak, Arseni Markoff, Sabine Preisler-Adams, Günther Winde, Nadia Bogdanova, and Jürgen Horst
Received March 12, 1998; Accepted April 15, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #12 (1998) Online
Print Citation: Volume 12, Issue 3, page 219

A novel missense mutation (G1381) in the G6PD gene identified in a Chinese man
Ren Xiaoqin, He Yongsu, Du Chuanshu, Chen Luming, and Lin Qundi
Received October 1, 1997; Accepted February 13, 1998
Online Citation: Human Mutation , Mutation and Polymorphism Report #11 (1998) Online
Print Citation: Volume 12, Issue 3, page 219

Identification of a rare polymorphism, S836S, in the tyrosine kinase domain of RET proto-oncogene
M a Eugenia Sáez, Beatriz Sánchez, Guillermo Antiñolo, and Salud Borrego
Received November 3, 1997; Accepted December 23, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #10 (1997) Online
Print Citation: Volume 11, Number 5, page 416

Nt g5311 C->T: A rare DNA variant within 3´UTR of the rhodopsin gene
Agustín Ruiz, Beatriz Sánchez, Salud Borrego, and Guillermo Antiñolo
Received October 31, 1997; Accepted December 23, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #9 (1997) Online
Print Citation: Volume 11, Number 5, page 416

Apo A-I Zaragoza (L144R): A novel mutation in the apolipoprotein A-I gene associated with familial hypoalphalipoproteinemia
Delia Recalde, Ana Cenarro, Fernando Civeira, and Miguel Pocoví
Received November 10, 1997; Accepted December 9, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #8 (1997) Online
Print Citation: Volume 11, Number 5, page 416

Identification of a common two-allele polymorphism, namely A389A, within the GABRR1 gene
Irene Marcos, Agustín Ruiz, Salud Borrego, and Guillermo Antiñolo
Received November 17, 1997; Accepted December 8, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #7 (1997) Online
Print Citation: Volume 11, Number 5, page 416

An insertion of CAT (659ins3) in exon 6 of L1CAM gene in a Chinese family with X-linked hydrocephalus
Tsang-Ming Ko, Li-Hui Tseng, Yu-Wan Lin, Hsiao-Lin Hwa, Pi-Mei Hsu, and Sou-Ming Chuang
Received June 6, 1997; Accepted December 3, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #6 (1997) Online
Print Citation: Volume 11, Number 5, page 416

P313L: A novel amino acid substitution within the C-terminal domain of the human RDS/peripherin gene
Agustín Ruiz , Salud Borrego, Javier Sánchez, and Guillermo Antiñolo
Received April 29, 1997; Accepted October 16, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #5 (1997) Online
Print Citation: Volume 11, Number 5, pages 415-416

A novel splice site mutation (384 1G-A) in the Friedreich's ataxia gene
Kit Doudney, Mark Pook, Sahar Al-Mahdawi, Jaime Carvajal, Renate Hillermann, and Susan Chamberlain
Received May 30, 1997; Accepted October 12, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #4 (1997) Online
Print Citation: Volume 11, Number 5, page 415

A 7296delTC mutation in the BRAC2 gene in a German early onset breast cancer family
Ute Hamann, Bastert Gunther, and Rodney J. Scott
Received July 29, 1997; Accepted October 4, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #3 (1997) Online
Print Citation: Volume 11, Number 5, page 415

A novel point mutation Met1Ile in the X25 gene responsible for Friedreich´s Ataxia
Franco Laccone and Manfred Schloesser
Received April 15, 1997; Accepted September 9, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #2 (1997) Online
Print Citation: Volume 11, Number 5, page 415

A point mutation (X355W) in the stop codon of ornithine transcarbamylase (OTC) that should cause a 14-residue C-terminal extension results in neonatal OTC deficiency and lack of OTC protein in the liver
Consuelo Climent, Miguel Angel Garcia-Perez, María Antonia Vilaseca, Paz Briones, and Vicente Rubio
Received April 23, 1997; Accepted September 5, 1997
Online Citation: Human Mutation , Mutation and Polymorphism Report #1 (1997) Online
Print Citation: Volume 11, Number 5, page 415

Novel DNA sequence differences in the beta2-adrenergic receptor gene promoter region
Bernd Timmermann, Guo-Hua Li, Friedrich C. Luft, Per Lund-Johansen, Falko Skrabal, and Margret R. Hoehe
Received September 24, 1997; Accepted October 5, 1997
Online Citation: Human Mutation , Mutation Note #19 (1997) Online
Print Citation: Volume 11, Number 4, pages 343-344

A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP
Philippe Maillet, Nicole Dalla Venezia, Muriel Bozon, Agnès Vallier, Jean Delaunay, and Faouzi Baklouti
Received January 10, 1997; Accepted May 25, 1997
Online Citation: Human Mutation , Mutation Note #18 (1997) Online
Print Citation: Volume 11, Number 4, pages 342-343

Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene
Michael J. O'Neill, Bambang Tridjaja, Matthijs J. Smith, Katrina M. Bell, Garry L. Warne, and Andrew H. Sinclair
Received February 3, 1997; Accepted June 9, 1997
Online Citation: Human Mutation , Mutation Note #17 (1997) Online
Print Citation: Volume 11, Number 4, pages 340-342

An androgen receptor gene mutation (A645D) in a boy with a normal phenotype
Agneta Nordenskjöld and Stefan Söderhäll
Received December 12, 1996; Accepted April 27, 1997
Online Citation: Human Mutation , Mutation Note #16 (1997) Online
Print Citation: Volume 11, Number 4, page 339

A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome
Thilo Dörk, Frank Schnieders, Sibylle Jakubiczka, Peter Wieacker, Traute Schroeder-Kurth, and Jörg Schmidtke
Received April 9, 1997; Accepted April 13, 1997
Online Citation: Human Mutation , Mutation Note #15 (1997) Online
Print Citation: Volume 11, Number 4, pages 337-339

Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin
G.B. Leoni, S. Pitzalis, R. Tonelli, and A. Cao
Received November 22, 1996; Accepted March 21, 1997
Online Citation: Human Mutation , Mutation Note #14 (1997) Online
Print Citation: Volume 11, Number 4, page 337

A novel single basepair insertion in exon 6 of the Bruton's tyrosine kinase (Btk) gene from a Japanese X-linked agammaglobulinemia patient with growth hormone insufficiency
Katsumi Abo, Hisahide Nishio, Myeong Jin Lee, Daisuke Tsuzuki, Toshikazu Takahashi, Shigeru Yoshida, Toshikazu Nakajima, Masafumi Matsuo, and Kimiaki Sumino
Received December 5, 1996; Accepted March 2, 1997
Online Citation: Human Mutation , Mutation Note #13 (1997) Online
Print Citation: Volume 11, Number 4, page 336

A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease
Isabelle Redonnet-Vernhet, Martine Chatelut, Robert Salvayre, and Thierry Levade
Received December 19, 1996; Accepted February 9, 1997
Online Citation: Human Mutation , Mutation Note #12 (1997) Online
Print Citation: Volume 11, Number 4, pages 335-336

Novel Cystic fibrosis mutation involving the deletion of exons 14b through 18 (CF?20kbdel 14b-18) in a cystic fibrosis patient of German descent from upstate New York
Antony E. Shrimpton and Drucy Borowitz
Received October 29, 1996; Accepted January 17, 1997
Online Citation: Human Mutation , Mutation Note #11 (1997) Online
Print Citation: Supplement 1 (1998), page S330

A619àG substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism
Isabelle Redonnet-Vernhet, Martine Chatelut, Louis Buscail, Don J. Mahuran, Robert Salvayre, and Thierry Levade
Received September 11, 1996; Accepted December 21, 1996
Online Citation: Human Mutation , Mutation Note #10 (1997) Online
Print Citation: Supplement 1 (1998), page S329

New Mutation (S298P) in a patient with glycogen storage disease type IA
Marina Stroppiano, Rafaella Mazzotti, Stefano Regis, and Rosanna Gatti
Received May 17, 1996; Accepted December 8, 1996
Online Citation: Human Mutation , Mutation Note #9 (1997) Online
Print Citation: Supplement 1 (1998), page S329

Novel Missense mutation (P131R) in the HMG box of SRY in XY sex reversal
Yvonne Lundberg, Martin Ritzén, Jonas Harlin, and Anna Wedell
Received August 23, 1996; Accepted November 11, 1996
Online Citation: Human Mutation , Mutation Note #8 (1997) Online
Print Citation: Supplement 1 (1998), page S328

Novel 4-bp insertion in exon 5 of the CuZn-superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis
Claus Hansen, Ole Gredal, Lene Werdelin, Peter M. Andersen, Stefan L. Marklund, Peter Nilsson, Michael B Petersen, and Karen Brøndum-Nielsen
Received July 22, 1996; Accepted November 10, 1996
Online Citation: Human Mutation , Mutation Note #7 (1997) Online
Print Citation: Supplement 1 (1998), page S327

R395W, K497E and P664L: three missense mutations in the LDL receptor gene in Czech patients with familial hypercholesterolemia
Viera Kuhrová, Libor Kozák, Vladimír Soška, Lenka Fajkusová, Jaroslav Stejskal, Michaela Blazková, Tomáš Freiberger, and Alzbeta Jurtiková
Received October 17, 1996; Accepted November 10, 1996
Online Citation: Human Mutation , Mutation Note #6 (1997) Online
Print Citation: Supplement 1 (1998), page S327

11269N: a novel mutation in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
Tarra L. McDowell, Sue Shackleton, and Ann Harris
Received March 1, 1996; Accepted October 8, 1996
Online Citation: Human Mutation , Mutation Note #5 (1997) Online
Print Citation: Supplement 1 (1998), page S326

Trp156Ter mutation in the PAX6 gene in a family with aniridia
Amanda J. Churchill, Rashida Anwar, Adam P. Booth, Richard Axton, and Alex F. Markham Received July 29, 1996; Accepted November 5, 1996
Online Citation: Human Mutation , Mutation Note #4 (1997) Online
Print Citation: Supplement 1 (1998), page S326

Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: a novel mutation in exon 3
Cezary Zekanowski, Barbara Cabalska, Piotr Borsuk, and Jerzy Bal
Received May 13, 1996; Accepted August 12, 1996
Online Citation: Human Mutation , Mutation Note #3 (1997) Online
Print Citation: Supplement 1 (1998), page S325

Novel mutation (G188R) in the G6Pase Gene of a patient with glycogen storage disease type 1a
Pascale Trioche, Philippe Labrune, Michel Odièvre, Michelle Hadchouel, and Jean-François Deleuze
Received March 5, 1996; Accepted June 19, 1996
Online Citation: Human Mutation , Mutation Note #2 (1997) Online
Print Citation: Supplement 1 (1998), pages S323-S324

New mutation in BRCA1 gene detected in Austrian HBOC family
T.M.U. Wagner, R. Möslinger, O. Scheiner, H. Breiteneder, and P. Devilee
Received February 12, 1996; Accepted May 15, 1996
Online Citation: Human Mutation , Mutation Note #1 (1997) Online
Print Citation: Supplement 1 (1998), page S323


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