Human Mutation

Cover image for Vol. 35 Issue 8

Edited By: Richard G.H. Cotton and Garry R. Cutting

Impact Factor: 5.213

ISI Journal Citation Reports © Ranking: 2012: 22/161 (Genetics & Heredity)

Online ISSN: 1098-1004

Mutations in Brief: 1995-2000


Announcement from the Publisher
Mutations in Brief published in 2008
Mutations in Brief published in 2007
Mutations in Brief published in 2006
Mutations in Brief published in 2005
Mutations in Brief published in 2004
Mutations in Brief published in 2003
Mutations in Brief published in 2002
Mutations in Brief published in 2001
Mutations in Brief accepted in 1995-2000

Frameshift Mutations With Severe and Moderate Clinical Phenotypes in Thai Hemophilia A Patients
Varaporn Akkarapatumwong, Sorasak Intorasoot, Sumalee Oranwiroon, Prapaporn Thanootarakul, Parichat Pung-amritt, Gavivann Veerakul, Chularatana Mahasandana, Sakol Panyim, and Pa-thai Yenchitsomanus
Received July 13, 2000; Revised manuscript accepted September 29, 2000
Online Citation: Human Mutation , Mutation in Brief #381 (2000) Online
Print Citation: Volume 16, Issue 6, pages 530-531

Polymorphisms in a Pseudogene Highly Homologous to PMS2
Robert B. Chadwick, Julie E. Meek, Thomas W. Prior, Paivi Peltomaki, and Albert de la Chapelle
Received August 9, 2000; Revised manuscript accepted September 27, 2000
Online Citation: Human Mutation , Mutation in Brief #380 (2000) Online
Print Citation: Volume 16, Issue 6, page 530

Ten Novel BRCA1 and BRCA2 Mutations in Breast and/or Ovarian Cancer Families From Northern Germany
Marion Kiechle, Eva Gross, Ulrike Schwarz-Boeger, Jacobus Pfisterer,Walter Jonat, Wolf-Dieter Gerber, Birgit Albacht, Barbara Fischer, Brigitte Schlegelberger, and Norbert Arnold
Received July 20, 2000; Revised manuscript accepted September 26, 2000
Online Citation: Human Mutation , Mutation in Brief #379 (2000) Online
Print Citation: Volume 16, Issue 6, pages 529-530

Low Frequency of Ankyrin Mutations in Hereditary Spherocytosis: Identification of Three Novel Mutations
Roberta Campanile A. Leite, Daniela S. Basseres, Jovino S. Ferreira, Fernando Lopes Alberto, Fernando F. Costa, and, Sara T.O. Saad
Received June 15, 2000; Revised manuscript accepted September 22, 2000
Online Citation: Human Mutation , Mutation in Brief #378 (2000) Online
Print Citation: Volume 16, Issue 6, page 529

BTK Mutations in Patients With X-linked Agammaglobulinemia: Lack of Correlation Between Presence of Peripheral B Lymphocytes and Specific Mutations
Luan Tao, Mark Boyd, Greg Gonye, Barbara Malone, and Jerrold Schwaber
Received August 3, 2000; Revised manuscript accepted September 19, 2000
Online Citation: Human Mutation , Mutation in Brief #377 (2000) Online
Print Citation: Volume 16, Issue 5, pages 528-529

Novel Thymidylate Synthase Enhancer Region Alleles in African Populations
Sharon Marsh, Margaret M. Ameyaw, Jessie Githang'a, Anne Indalo, David Ofori-Adjei, and Howard L. McLeod
Received May 29, 2000; Revised manuscript accepted September 14, 2000
Online Citation: Human Mutation , Mutation in Brief #376 (2000) Online
Print Citation: Volume 16, Issue 6, page 528

Recurrent and Novel Mutations of GCDH Gene in Chinese Glutaric Acidemia Type I Families
Nelson L.S. Tang, Joannie Hui, L.K. Law, Y.Y. Lam, K.Y. Chan, W.L. Yeung, Albert Y.W. Chan, K.L. Cheung, and T.F. Fok
Received June 13, 2000; Revised manuscript accepted September 8, 2000
Online Citation: Human Mutation , Mutation in Brief #375 (2000) Online
Print Citation: Volume 16, Issue 5, page 446

Pharmacogenetics of Catechol-O-Methyltransferase: Frequency of Low Activity Allele in a Ghanaian Population
Margaret-Mary Ameyaw, Ann-Christine Syvanen, Ismo Ulmanen, David Ofori-Adjei, and Howard L. McLeod
Received May 26, 2000; Revised manuscript accepted September 7, 2000
Online Citation: Human Mutation , Mutation in Brief #374 (2000) Online
Print Citation: Volume 16, Issue 5, pages 445-446

Six Novel MEN1 Gene Mutations in Sporadic Parathyroid Tumors
Filomena Cetani, Elena Pardi, Anna Giovannetti, Paola Cerrai, Simona Borsari, Edda Vignali, Antonella Picone, Luisella Cianferotti, Paolo Miccoli, Aldo Pinchera, Claudio Marcocci
Received May 25, 2000; Revised manuscript accepted August 29, 2000
Online Citation: Human Mutation , Mutation in Brief #373 (2000) Online
Print Citation: Volume 16, Issue 5, page 445

Novel Splicing and Missense Mutations in Autosomal Dominant Polycystic Kidney Disease 1 (PKD1) Gene: Expression of Mutated Genes
Gianluca Aguiari, Simone Savelli, Monica Garbo, Angela Bozza, Giuseppina Augello, Letizia Penolazzi, Ermanno De Paoli Vitali, Costantina La Torre, Gianni Cappelli, Roberta Piva, and Laura del Senno
Received July 18, 2000; Revised manuscript accepted August 14, 2000
Online Citation: Human Mutation , Mutation in Brief #372 (2000) Online
Print Citation: Volume 16, Issue 5, pages 444-445

Genetic Heterogeneity of Glycogen Storage Disease Type Ia in France: A Study of 48 Patients
Pascale Trioche, Jeanne Francoual, Jacqueline Chalas, Liliane Capel, Albert Lindenbaum, Michel Odièvre, Philippe Labrune
Received June 10, 2000; Revised manuscript accepted August 14, 2000
Online Citation: Human Mutation , Mutation in Brief #371 (2000) Online
Print Citation: Volume 16, Issue 5, page 444

Identification and Characterization of Two Novel Mutations that Produce Acute Intermittent Porphyria: a 3-Base Deletion (841-843delGGA) and a Missense Mutation (T35M)
Adriana De Siervi, Débora E. Weiss Cádiz, Victoria E. Parera, Alcira M. del C. Batlle, and Maria Victoria Rossetti
Received May 3, 2000; Revised manuscript accepted August 2, 2000
Online Citation: Human Mutation , Mutation in Brief #370 (2000) Online
Print Citation: Volume 16, Issue 4, page 373

Molecular Anatomy of CTG Expansion in Myotonin Protein Kinase Gene among Myotonic Dystrophy Patients from Eastern India
Priyadarshi Basu, Prasanta K. Gangopadhaya, Subhas C. Mukherjee, Shyamal K. Das, Krishna K. Sinha, and Nitai P. Bhattacharyya
Received June 16, 2000; Revised manuscript accepted July 31, 2000
Online Citation: Human Mutation , Mutation in Brief #369 (2000) Online
Print Citation: Volume 16, Issue 4, page 372

Homocystinuria in the Arab Population of Israel: Identification of Two Novel Mutations Using DGGE Analysis
Galia Gat-Yablonski, Hanna Mandel, Brian Fowler, Omar Taleb, and Ben-Ami Sela
Received May 14, 2000; Revised manuscript accepted July 25, 2000
Online Citation: Human Mutation , Mutation in Brief #368 (2000) Online
Print Citation: Volume 16, Issue 4, page 372

Factor IX Mutations in South Africans and African Americans Are Compatible with Primarily Endogenous Influences upon Recent Germline Mutations
Xuemin Li, Joni B. Drost, Stacy Roberts, Carol Kasper, and Steve S. Sommer
Received June 9, 2000; Revised manuscript accepted July 21, 2000
Online Citation: Human Mutation , Mutation in Brief #367 (2000) Online
Print Citation: Volume 16, Issue 4, page 371

Allelic Imbalance of BRCA1 Transcript in the IVS20 12-bp Insertion Carrier
Piotr Kozlowski, Krzysztof Sobczak, Anna Jasinska, and Wlodzimierz J. Krzyzosiak
Received May 30, 2000; Revised manuscript accepted July 20, 2000
Online Citation: Human Mutation , Mutation in Brief #366 (2000) Online
Print Citation: Volume 16, Issue 4, page 371

An Association Study of Polymorphisms in the Alpha-Antichymotrypsin Gene for Alzheimer Disease in Han-Chinese
Guangxun Meng, Jinduo Yuan, Liguo An, Jialei Gong, Hanmin Zhu, Sisong Cui, Zhengyan Yu, and Gengxi Hu
Received March 5, 2000; Revised manuscript accepted July 6, 2000
Online Citation: Human Mutation , Mutation in Brief #365 (2000) Online
Print Citation: Volume 16, Issue 3, pages 275-276

A -96C T Mutation in the Promoter of the Collagen Type VII Gene (COL7A1) Abolishing Transcription in a Patient Affected by Recessive Dystrophic Epidermolysis Bullosa
Rita Gardella, Sergio Barlati, Nicoletta Zoppi, Gianluca Tadini, and Marina Colombi
Received June 8, 2000; Revised manuscript accepted June 27, 2000
Online Citation: Human Mutation , Mutation in Brief #364 (2000) Online
Print Citation: Volume 16, Issue 3, page 275

NF1 Gene Analysis Focused on CpG-Rich Exons in a Cohort of 93 Patients with Neurofibromatosis Type 1
E. Girodon Boulandet, J. Pantel, C. Cazeneuve, M. Van Gijn, D. Vidaud, S. Lemay, J. Martin, J. Zeller, J.Revuz, M. Goossens, S. Amselem, and P. Wolkenstein
Received June 7, 2000; Revised manuscript accepted June 22, 2000
Online Citation: Human Mutation , Mutation in Brief #363 (2000) Online
Print Citation: Volume 16, Issue 3, pages 274-275

Two Distinct Alu-Mediated Deletions of the Human ABO-Secretor (FUT2) Locus in Samoan and Bangladeshi Populations
Hao Pang, Noboru Fujitani, Mikiko Soejima, Yoshiro Koda, Mohammed Nasimul Islam, A. K. M. Shamsul Islam, and Hiroshi Kimura
Received May 19, 2000; Revised manuscript accepted June 13, 2000
Online Citation: Human Mutation , Mutation in Brief #362 (2000) Online
Print Citation: Volume 16, Issue 3, page 274

Sequence Variation within the RPGR Gene: Evidence for a Founder Complex Allele
Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L. Thiselton, Shomi S. Bhattacharya, and Alison J. Hardcastle
Received May 16, 2000; Revised manuscript accepted June 13, 2000
Online Citation: Human Mutation , Mutation in Brief #361 (2000) Online
Print Citation: Volume 16, Issue 3, page 273-274

Proposed Mechanism for a Novel Insertion/Deletion Frameshift Mutation (I414G415ATCG CCA) in the Hepatocyte Nuclear Factor 1 Alpha (HNF-1 ) Gene Which Causes Maturity-Onset Diabetes of the Young (MODY)
Sian Ellard, Michael P. Bulman, Timothy M. Frayling, Maggie Shepherd, and Andrew T. Hattersley
Received February 10, 2000; Revised manuscript accepted June 8, 2000
Online Citation: Human Mutation , Mutation in Brief #360 (2000) Online
Print Citation: Volume 16, Issue 3, page 273

BRCA1 Mutation Analysis in Breast/Ovarian Cancer Families from Greece
Irene Konstantopoulou, Christos Kroupis, Angela Ladopoulou, Alexandros Pantazidis, Dimitra Boumba, Evriklia S. Lianidou, Michael B. Petersen, Lina Florentin, Efstratios Chiotellis, George Nounesis, Eleni Efstathiou, Dimosthenis Skarlos, Christina Tsionou, George Fountzilas, and Drakoulis Yannoukakos
Received April 26, 2000; Revised manuscript accepted June 7, 2000
Online Citation: Human Mutation , Mutation in Brief #359 (2000) Online
Print Citation: Volume 16, Issue 3, pages 272-273

MEFV Mutations in Behçet's Disease
Isabelle Touitou, Xavier Magne, Nicolas Molinari, André Navarro, Alain Le Quellec, Paolo Picco, Marco Seri, Seza Ozen, Aysin Bakkaloglu, Aysen Karaduman, Jean Marc Garnier, Jacques Demaille, Isabelle Koné-Paut
Received April 27, 2000; Revised manuscript accepted June 6, 2000
Online Citation: Human Mutation , Mutation in Brief #358 (2000) Online
Print Citation: Volume 16, Issue 3, pages 271-272

Detection of Mutations in the ALD Gene (ABCD1) in Seven Italian Families: Description of Four Novel Mutations
M. Gomez Lira, M. Mottes, P.F. Pignatti, I. Medica, G. Uziel, M. Cappa, E. Bertini, N. Rizzuto, and A. Salviati
Received March 24, 2000; Revised manuscript accepted June 6, 2000
Online Citation: Human Mutation , Mutation in Brief #357 (2000) Online
Print Citation: Volume 16, Issue 3, page 271

A Cluster of Lysinuric Protein Intolerance (LPI) Patients in a Northern Part of Iwate, Japan due to a Founder Effect
Akio Koizumi, Yutaka Shoji, Jun-nichi Nozaki, Atsuko Noguchi, Xiaofei E, Miwako Dakeishi, Toshihiro Ohura, Kayo Tsuyoshi, Wada Yasuhiko, Motomu Manabe, Yuhei Takasago, Goro Takada, and the Mass Screening Group
Received April 28, 2000; Revised manuscript accepted June 2, 2000
Online Citation: Human Mutation , Mutation in Brief #356 (2000) Online
Print Citation: Volume 16, Issue 3, pages 270-271

Novel Mutations in the Myocilin Gene in Japanese Glaucoma Patients
Ryo Kubota, Yukihiko Mashima, Yuichiro Ohtake, Tomihiko Tanino, Tairo Kimura, Yoshihiro Hotta, Atsushi Kanai, Satoru Tokuoka, Ikuo Azuma, Hidenobu Tanihara, Masaru Inatani, Yoichi Inoue, Jun Kudoh, Yoshihisa Oguchi, Nobuyoshi Shimizu
Received March 24, 2000; Revised manuscript accepted May 31, 2000
Online Citation: Human Mutation , Mutation in Brief #355 (2000) Online
Print Citation: Volume 16, Issue 3, page 270

Mutations in Familial Porphyria Cutanea Tarda: Two Novel and Two Previously Described for Hepatoerythropoietic Porphyria
Manuel Mendez, María Victoria Rossetti, Adriana De Siervi, Alcira M. del Carmen Batlle, and Victoria Parera
Received March 20, 2000; Revised manuscript accepted May 31, 2000
Online Citation: Human Mutation , Mutation in Brief #354 (2000) Online
Print Citation: Volume 16, Issue 3, pages 269-270

Mutation Analysis of the MEN1 Gene in Israeli Patients with MEN1 and Familial Isolated Hyperprolactinemia
Orit Jakobovitz-Picard, David Olchovsky, Meir Berezin, Azizela Ghodsizade, Zvi Zahavi, Avraham Karasik, Gideon Rechavi, and Eitan Friedman
Received February 24, 1999; Revised manuscript accepted August 16, 1999
(This article was accepted in August 1999, but publication was delayed; hence the break from chronological order.)
Online Citation: Human Mutation , Mutation in Brief #353 (2000) Online
Print Citation: Volume 16, Issue 3, page 269

mut 0 Methylmalonic Acidemia: Eleven Novel Mutations of the Methylmalonyl CoA Mutase Including a Deletion-Insertion Mutation
A. Fuchshuber, B. Mucha, E. R. Baumgartner, M. Vollmer, and F. Hildebrandt
Received April 3, 2000; Revised manuscript accepted May 30, 2000
Online Citation: Human Mutation , Mutation in Brief #352 (2000) Online
Print Citation: Volume 16, Issue 2, page 179

Structural Evidence of Genomic Exon-Deletion Mediated by Alu-Alu Recombination in a Human Case with Heme Oxygenase-1 Deficiency
Yutaka Saikawa, Hisashi Kaneda, Lijie Yue, Shoetu Shimura, Tomoko Toma, Yoshihito Kasahara, Akihiro Yachie, and Shoichi Koizumi
Received April 13, 2000; Revised manuscript accepted May 24, 2000
Online Citation: Human Mutation , Mutation in Brief #351 (2000) Online
Print Citation: Volume 16, Issue 2, pages 178-179

Eleven Novel APC Mutations Identified in Portuguese FAP Families
G. Isidro, P. Matos, S. Almeida, S. Claudino, B. Marshall, J. Soares, J. Leite, F. Regateiro, M.J. Brito, J. Giria, C. Castro, J. Ramos, L. Novais, H. Morna, A. Medeira, S. Castedo, and M.G. Boavida
Received March 9, 2000; Revised manuscript accepted May 24, 2000
Online Citation: Human Mutation , Mutation in Brief #350 (2000) Online
Print Citation: Volume 16, Issue 2, page 178

Mutations in the Peripheral Myelin Protein Zero and Connexin32 Genes Detected by non-Isotopic RNase Cleavage Assay and Their Phenotypes in Japanese Patients with Charcot-Marie-Tooth Disease
Tsuyoshi Yoshihara, Masahiko Yamamoto, Manabu Doyu, Ken-ichiro Misu, Naoki Hattori, Yasuhiro Hasegawa, Kenji Mokuno, Terunori Mitsuma, and Gen Sobue
Received March 17, 2000; Revised manuscript accepted May 22, 2000
Online Citation: Human Mutation , Mutation in Brief #349 (2000) Online
Print Citation: Volume 16, Issue 2, pages 177-178

Molecular Analysis in Glycogen Storage Disease 1 non-A : DHPLC Detection of the Highly Prevalent Exon 8 Mutations of the G6PT1 Gene in German Patients
R. Santer, J. Rischewski, G. Block, M. Kinner, U. Wendel, J. Schaub, and R. Schneppenheim
Received April 10, 2000; Revised manuscript accepted May 22, 2000
Online Citation: Human Mutation , Mutation in Brief #348 (2000) Online
Print Citation: Volume 16, Issue 2, page 177

Characterization of 11 New Mutations in COL3A1 of Individuals with Ehlers-Danlos Syndrome Type IV: Preliminary Comparison of RNase Cleavage, EMC and DHPLC Assays
Cecilia Giunta and Beat Steinmann
Received April 14, 2000; Revised manuscript accepted May 19, 2000
Online Citation: Human Mutation , Mutation in Brief #347 (2000) Online
Print Citation: Volume 16, Issue 2, pages 176-177

Screening of the PKD1 Duplicated Region Reveals Multiple Single Nucleotide Polymorphisms and a de novo Mutation in Hellenic Polycystic Kidney Disease Families
Michael Koptides, Richard Mean, Kyproula Demetriou, Rolandos Constantinides, Alkis Pierides, Peter C. Harris, and C. Constantinou Deltas
Received April 25, 2000; Revised manuscript accepted May 16, 2000
Online Citation: Human Mutation , Mutation in Brief #346 (2000) Online
Print Citation: Volume 16, Issue 2, page 176

Enzymatic Mutation Detection (EMD™) of Novel Mutations (R565X and R1523X) in the FBN1 Gene of Patients with Marfan Syndrome Using T4 Endonuclease VII
Rima Youil, Timothy J. Toner, Evelyn Bull, Anne L. Bailey, Christopher D. Earl, Harry C. Dietz, and Robert A. Montgomery
Received April 26, 2000; Revised manuscript accepted May 15, 2000
Online Citation: Human Mutation , Mutation in Brief #345 (2000) Online
Print Citation: Volume 16, Issue 1, pages 92-93

Identification of a Larger than 3 Mb Deletion Including JAG1 in an Alagille Syndrome Patient with a Translocation t(3;20)(q13.3;p12.2)
T. Oda, A.G. Elkahloun, P.S. Meltzer, K. Okajima, K. Sugiyama, Y. Wada, and S.C. Chandrasekharappa
Received March 28, 2000; Revised manuscript accepted May 10, 2000
Online Citation: Human Mutation , Mutation in Brief #344 (2000) Online
Print Citation: Volume 16, Issue 1, page 92

Novel Germline Mutation (300-305delAGTTGA) in the Human MSH2 Gene in Hereditary Non-polyposis Colorectal Cancer (HNPCC)
S. Glasl, L. Papatheodorou, Gustavo Baretton, Ch. Jung, and M. Gross
Received March 13, 2000; Revised manuscript accepted May 9, 2000
Online Citation: Human Mutation , Mutation in Brief #343 (2000) Online
Print Citation: Volume 16, Issue 1, pages 91-92

Distribution of Q188R and N314D Mutations in the Hungarian Galactosemic Population
A. Horváth, P. Gyurus, A. Kis, A. László, Á. Schuler, G. Kosztolányi, and B. Melegh
Received February 9, 2000; Revised manuscript accepted May 9, 2000
Online Citation: Human Mutation , Mutation in Brief #342 (2000) Online
Print Citation: Volume 16, Issue 1, page 91

Three Different Premature Stop Codons Lead to Skipping of Exon 7 in Neurofibromatosis Type I Patients
Katharina Wimmer, Markus Eckart, Peter F. Stadler, Helga Rehder, and Christa Fonatsch
Received February 3, 2000; Revised manuscript accepted May 9, 2000
Online Citation: Human Mutation , Mutation in Brief #341 (2000) Online
Print Citation: Volume 16, Issue 1, pages 90-91

Mutational Analysis of the Lysyl Hydroxylase 1 Gene (PLOD) in Six Unrelated Patients with Ehlers-Danlos Syndrome Type VI: Prenatal Exclusion of this Disorder in One Family
Heather N. Yeowell, Linda C. Walker, Brent Farmer, Jari Heikkinen, and Raili Myllyla
Received March 24, 2000; Revised manuscript accepted May 3, 2000
Online Citation: Human Mutation , Mutation in Brief #340 (2000) Online
Print Citation: Volume 16, Issue 1, page 90

Identification of PATCHED Mutations in Medulloblastomas by Direct Sequencing
Jianli Dong, Mae R. Gailani, Scott L. Pomeroy, David Reardon, and Allen E. Bale
Received March 1, 2000; Revised manuscript accepted April 27, 2000
Online Citation: Human Mutation , Mutation in Brief #339 (2000) Online
Print Citation: Volume 16, Issue 1, pages 89-90

Identification of Mutations in the Glucose-6-Phosphatase Gene in Czech and Slovak Patients with Glycogen Storage Disease Type Ia, Including Novel Mutations K76N, V166A and 540del5
Libor Kozák, Hana Francová, Eva Hrabincová, Sylvie Štastní, Karolína Pešková, and Milan Elleder
Received February 3, 2000; Revised manuscript accepted April 27, 2000
Online Citation: Human Mutation , Mutation in Brief #338 (2000) Online
Print Citation: Volume 16, Issue 1, page 89

Mutational Analysis of BRCA1 and BRCA2 Genes in Chinese Ovarian Cancer Identifies 6 Novel Germline Mutations
Ui-Soon Khoo, Hextan Y.S.Ngan, Annie N.Y.Cheung, Kelvin Y.K. Chan, Jing Lu, Vivian W.Y.Chan, Susan Lau, Irene L.Andrulis, and Hilmi Ozcelik
Received February 21, 2000; Revised manuscript accepted April 10, 2000
Online Citation: Human Mutation , Mutation in Brief #337 (2000) Online
Print Citation: Volume 16, Issue 1, pages 88-89

Tuberous Sclerosis Type 1: Three Novel Mutations Detected in Exon 15 by a Combination of HDA and TGGE
Juliette Hass, Karin Mayer, and Hans-Dieter Rott
Received March 6, 2000; Revised manuscript accepted April 3, 2000
Online Citation: Human Mutation , Mutation in Brief #336 (2000) Online
Print Citation: Volume 16, Issue 1, page 88

Novel Allele Containing a 190C>T Nonsynonymous Substitution in the N-acetyltransferase (NAT2) Gene
Kaori Shishikura, Hirohiko Hohjoh, and Katsushi Tokunaga
Received September 22, 1999; Revised manuscript accepted March 30, 2000
Online Citation: Human Mutation , Mutation in Brief #335 (2000) Online
Print Citation: Volume 15, Issue 6, page 581

Survey of the Coding Region of the HERG Gene in Long QT Syndrome Reveals Six Novel Mutations and an Amino Acid Polymorphism with Possible Phenotypic Effects
Päivi Laitinen, Heidi Fodstad, Kirsi Piippo, Heikki Swan, Lauri Toivonen, Matti Viitasalo, Jaakko Kaprio, and Kimmo Kontula
Received January 20, 2000; Revised manuscript accepted March 29, 2000
Online Citation: Human Mutation , Mutation in Brief #334 (2000) Online
Print Citation: Volume 15, Issue 6, pages 580-581

Novel Frameshift Mutations in the RP2 Gene and Polymorphic Variants
Dawn L. Thiselton, Ilaria Zito, Catherine Plant, Marcelle Jay, Shirley V. Hodgson, Alan C. Bird, Shomi S. Bhattacharya, and Alison J. Hardcastle
Received January 21, 2000; Revised manuscript accepted March 29, 2000
Online Citation: Human Mutation , Mutation in Brief #333 (2000) Online
Print Citation: Volume 15, Issue 6, page 580

Identification of Novel Mutations in Spanish Patients with Muscle Carnitine Palmitoyltransferase II Deficiency
Miguel A. Martín, Juan C. Rubio, Pilar del Hoyo, Alberto García, Fernando Bustos, Yolanda Campos, Ana Cabello, José M. Culebras, and Joaqu�n Arenas
Received March 9, 2000; Revised manuscript accepted March 27, 2000
Online Citation: Human Mutation , Mutation in Brief #332 (2000) Online
Print Citation: Volume 15, Issue 6, pages 579-580

Spectrum of COL4A5 Mutations in Finnish Alport Syndrome Patients
Paula Martin, Niina Heiskari , Heli Pajari, Carola Grönhagen-Riska, Helena Kääriäinen, Olli Koskimies, and Karl Tryggvason
Received January 31, 2000; Revised manuscript accepted March 20, 2000
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