Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

July 2000

Volume 16, Issue 1

Pages 1–96

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia (pages 1–6)

      Yves Sabbagh, Andrew O. Jones and Harriet S. Tenenhouse

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J

  2. Rapid Communications

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness (pages 7–12)

      T. Antoniadi, K. Grønskov, A. Sand, A. Pampanos, K. Brøndum-Nielsen and M.B. Petersen

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<7::AID-HUMU2>3.0.CO;2-A

    2. Private β- and γ-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy (pages 13–17)

      Marina Fanin, Eric P. Hoffman, Corrado Angelini and Elena Pegoraro

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: Determination of the molecular basis (pages 18–22)

      Cora M. Aalfs, Georgette B. Salieb-Beugelaar, Ronald J.A. Wanders, Marcel M.A.M. Mannens and Frits A. Wijburg

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<18::AID-HUMU4>3.0.CO;2-N

    2. Genetic heterogeneity in Peutz-Jeghers syndrome (pages 23–30)

      Lisa A. Boardman, Fergus J. Couch, Lawrence J. Burgart, David Schwartz, Rebecca Berry, Shannon K. McDonnell, Daniel J. Schaid, Lynn C. Hartmann, Jennifer J. Schroeder, Constantine A. Stratakis and Stephen N. Thibodeau

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M

    3. The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation (pages 31–36)

      Jing-Zhong Liu, Xuemin Li, Joni Drost, Erik C. Thorland, Qiang Liu, Tammy Lind, Stacy Roberts, H.Y. Wang and Steve S. Sommer

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<31::AID-HUMU6>3.0.CO;2-I

    4. The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families (pages 37–42)

      Tal Raz, Valentina Labay, Dana Baron, Raymonde Szargel, Yefim Anbinder, Tim Barrett, Wolfgang Rabl, Marcos B. Viana, Hanna Mandel, Andre Baruchel, Jean-Michel Cayuela and Nadine Cohen

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<37::AID-HUMU7>3.0.CO;2-9

    5. The spectrum of patched mutations in a collection of Australian basal cell carcinomas (pages 43–48)

      Timothy Evans, Waranya Boonchai, Susan Shanley, Ian Smyth, Susan Gillies, Kylie Georgas, Brandon Wainwright, Georgia Chenevix-Trench and Carol Wicking

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<43::AID-HUMU8>3.0.CO;2-7

    6. 3′ polymorphisms of ETS1 are associated with different clinical phenotypes in SLE (pages 49–53)

      Kathleen E. Sullivan, Lisa M. Piliero, Tushar Dharia, Daniel Goldman and Michelle A. Petri

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<49::AID-HUMU9>3.0.CO;2-Z

    7. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS (pages 54–60)

      Nenad Blau, Tanja Scherer-Oppliger, Alessandra Baumer, Mariluce Riegel, Ana Matasovic, Albert Schinzel, Jaak Jaeken and Beat Thöny

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<54::AID-HUMU10>3.0.CO;2-C

  4. Methods

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. Evaluation of enzymatic mutation detection™ in hereditary nonpolyposis colorectal cancer (pages 61–67)

      Robyn Otway, Natasha Tetlow, June Hornby and Maija Kohonen-Corish

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<61::AID-HUMU11>3.0.CO;2-H

    2. Signature-based analysis of MET proto-oncogene mutations using DHPLC (pages 68–76)

      Michael L. Nickerson, Gregor Weirich, Berton Zbar and Laura S. Schmidt

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<68::AID-HUMU12>3.0.CO;2-U

    3. Rapid and comprehensive determination of cytochrome P450 CYP2D6 poor metabolizer genotypes by multiplex polymerase chain reaction (pages 77–85)

      Rebecca Roberts, Patrick Sullivan, Peter Joyce and Martin A. Kennedy

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<77::AID-HUMU13>3.0.CO;2-T

  5. Erratum

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa; Robyn Kerr, Gwynneth Stevens, Prashiela Manga, Sarah Salm, Premila John, Tabitha Haw, and Michele Ramsay; (Article was originally published in Human Mutation 15:166–172, 2000) (page 87)

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<87::AID-HUMU14>3.0.CO;2-P

  6. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. You have free access to this content
      Tuberous sclerosis type 1: Three novel mutations detected in exon 15 by a combination of HDA and TGGE (page 88)

      Juliette Hass, Karin Mayer and Hans-Dieter Rott

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<88::AID-HUMU15>3.0.CO;2-J

    2. You have free access to this content
      Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations (pages 88–89)

      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

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<88::AID-HUMU16>3.0.CO;2-G

    3. You have free access to this content
      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 (page 89)

      Libor Kozák, Hana Francová, Eva Hrabincová, Sylvie Štastná, Karolína Pešková and Milan Elleder

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<89::AID-HUMU17>3.0.CO;2-A

    4. You have free access to this content
      Identification of PATCHED mutations in medulloblastomas by direct sequencing (pages 89–90)

      Jianli Dong, Mae R. Gailani, Scott L. Pomeroy, David Reardon and Allen E. Bale

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<89::AID-HUMU18>3.0.CO;2-7

    5. You have free access to this content
      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 (page 90)

      Heather N. Yeowell, Linda C. Walker, Brent Farmer, Jari Heikkinen and Raili Myllyla

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<90::AID-HUMU19>3.0.CO;2-U

    6. You have free access to this content
      Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients (pages 90–91)

      Katharina Wimmer, Markus Eckart, Peter F. Stadler, Helga Rehder and Christa Fonatsch

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J

    7. You have free access to this content
      Distribution of Q188R and N314D mutations in the Hungarian galactosemic population (page 91)

      A. Horváth, P. Gyurus, A. Kis, A. László, Á. Schuler, G. Kosztolányi and B. Melegh

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<91::AID-HUMU21>3.0.CO;2-D

    8. You have free access to this content
      Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC) (pages 91–92)

      S. Glasl, L. Papatheodorou, Gustavo Baretton, Ch. Jung and M. Gross

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<91::AID-HUMU22>3.0.CO;2-A

    9. You have free access to this content
      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) (page 92)

      T. Oda, A.G. Elkahloun, P.S. Meltzer, K. Okajima, K. Sugiyama, Y. Wada and S.C. Chandrasekharappa

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<92::AID-HUMU23>3.0.CO;2-4

    10. You have free access to this content
      Enzymatic mutation detection (EMD™) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII (pages 92–93)

      Rima Youil, Timothy J. Toner, Evelyn Bull, Anne L. Bailey, Christopher D. Earl, Harry C. Dietz and Robert A. Montgomery

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<92::AID-HUMU24>3.0.CO;2-1

  7. Mutation and Polymorphism Reports

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    8. Mutation and Polymorphism Reports
    1. A CRX mutation in a Finnish family with dominant cone-rod retinal dystrophy (page 94)

      Eeva-Marja Sankila, Tarja H. Joensuu, Riikka H. Hämäläinen, Nina Raitanen, Olavi Valle, Jaakko Ignatius and Bru Cormand

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<94::AID-HUMU25>3.0.CO;2-T

    2. A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b (page 94)

      Ching-Wan Lam, Kwok-Yin Chan, Sui-Fan Tong, Bik-Yan Chan, Yuk-Tat Chan and Yan-Wo Chan

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q

    3. Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a caucasian American family with Emery-Dreifuss muscular dystrophy (page 94)

      Caroline C. Menache, Charlotte A. Brown, Joseph H. Donnelly, Frederic Shapiro and Basil T. Darras

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<94::AID-HUMU27>3.0.CO;2-N

    4. A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease (page 95)

      G. Raux, R. Gantier, C. Martin, Y. Pothin, A. Brice, T. Frebourg and D. Campion

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H

    5. A novel missense mutation (L198R) in the Friedreich's ataxia gene (page 95)

      Sahar Al-Mahdawi, Mark Pook and Susan Chamberlain

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E

    6. Identification of a novel mutation, 1087delT, in exon 7 of the CFTR gene in a patient with cystic fibrosis (page 95)

      Marie-Noëlle Feuillet-Fieux, Isabelle Sermet, Aleksander Edelman, Tania Torossi, Magali Ferrec, Marcel Guillot, Gérard Lenoir, Jean-Paul Bonnefont and Laure Thuillier

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<95::AID-HUMU30>3.0.CO;2-3

    7. Three novel mutations (P215L, T289P, and 3811-2 A→G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families (pages 95–96)

      María Martinez-Gimeno, María José Trujillo, Isabel Lorda, Ascensión Gimenez, María Teresa Calvo, Carmen Ayuso and Miguel Carballo

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<95::AID-HUMU31>3.0.CO;2-0

    8. Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the γ2-COP (COPG2) gene by screening of Silver-Russell syndrome patients (page 96)

      S. Mergenthaler, N. Blagitko-Dorfs, H.A. Wollmann, M.B. Ranke, H.H. Ropers, V.M. Kalscheuer and T. Eggermann

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<96::AID-HUMU32>3.0.CO;2-V

    9. Polymorphism (1339G>A; A447T) in exon 13 of human kidney chloride channel gene CLCNKA (page 96)

      Ruby C.Y. Lin and Brian J. Morris

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<96::AID-HUMU33>3.0.CO;2-S

    10. A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria (page 96)

      Adriana De Siervi, Victoria E. Parera, Laura S. Varela, Alcira M del C Batlle and María V. Rossetti

      Article first published online: 23 JUN 2000 | DOI: 10.1002/1098-1004(200007)16:1<96::AID-HUMU34>3.0.CO;2-P

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