Human Mutation

Cover image for Human Mutation

December 2002

Volume 20, Issue 6

Pages 413–482

  1. Review Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
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      Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2 (pages 413–424)

      Alexander Liede and Steven A. Narod

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10154

  2. Mutation Update

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
    1. SLC26A3 mutations in congenital chloride diarrhea (pages 425–438)

      Siru Mäkelä, Juha Kere, Christer Holmberg and Pia Höglund

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10139

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
    1. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis (pages 439–446)

      Vasiliki Kalatzis, Lola Cohen-Solal, Béatrice Cordier, Yaacov Frishberg, Markus Kemper, E. Matti Nuutinen, Eric Legrand, Pierre Cochat and Corinne Antignac

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10141

    2. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous α-subunit mutations (pages 447–451)

      Ute Spiekerkoetter, Angela Eeds, Zou Yue, Jonathan Haines, Arnold W. Strauss and Marshall Summar

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10142

  4. Methods

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
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      Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene (pages 452–459)

      Ivon Cuscó, María J. Barceló, Montserrat Baiget and Eduardo F. Tizzano

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10144

  5. Letter to the Editor

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
    1. Increasing evidence that germline mutations in CHEK2 do not cause Li-Fraumeni syndrome (pages 460–462)

      Nayanta Sodha, Richard S. Houlston, Sarah Bullock, Martin A. Yuille, Carol Chu, Gwen Turner and Rosalind A. Eeles

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.10136

  6. Special Article

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
  7. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Mutation Update
    4. Research Articles
    5. Methods
    6. Letter to the Editor
    7. Special Article
    8. Mutations in Brief
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      D90A-SOD1 mediated amyotrophic lateral sclerosis: A single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype (page 473)

      Matthew J. Parton, Wendy Broom, Peter M. Andersen, Ammar Al-Chalabi, P. Nigel Leigh, John F. Powell and Christopher E. Shaw

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9081

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      BRCA1 and BRCA2 in Indian breast cancer patients (pages 473–474)

      Sunita Saxena, Csilla I. Szabo, Sandrine Chopin, Laure Barjhoux, Olga Sinilnikova, Gilbert Lenoir, David E. Goldgar and Dinesh Bhatanager

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9082

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      BRCA1 and BRCA2 sequence variants in Chinese breast cancer families (page 474)

      Xiangcheng Zhi, Csilla Szabo, Sandrine Chopin, Nicola Suter, Qing-Sheng Wang, Elaine A. Ostrander, Olga M. Sinilnikova, Gilbert M. Lenoir, David Goldgar and Yu-Rong Shi

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9083

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      BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico (pages 474–475)

      Pablo Ruiz-Flores, Olga M. Sinilnikova, Michael Badzioch, A.L. Calderon-Garcidueñas, Sandrine Chopin, Odefrey Fabrice, J.F. González-Guerrero, Csilla Szabo, Gilbert Lenoir, David E. Goldgar and Hugo A. Barrera-Saldaña

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9084

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      KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population (pages 475–476)

      Wenling Liu, Junguo Yang, Dayi Hu, Cailian Kang, Cuilan Li, Shuoyan Zhang, Ping Li, Zhijian Chen, Xuguang Qin, Kang Ying, Yuntian Li, Yushu Li, Zhiming Li, Xin Cheng, Lei Li, Yu Qi, Shenghan Chen and Qing Wang

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9085

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      Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies (page 476)

      Eva Paloma, Rosa Coco, Amalia Martínez-Mir, Lluïsa Vilageliu, Susana Balcells and Roser Gonzàlez-Duarte

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9086

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      A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease (page 477)

      S. Castillo, G. Reyes, D. Tejedor, P. Mozas, Y. Suarez, M.A. Lasuncion, A. Cenarro, F. Civeira, R. Alonso, P. Mata and M. Pocovi

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9087

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      GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY) (pages 478–479)

      Henian Cao, Sanam Shorey, John Robinson, Daniel L. Metzger, Laura Stewart, Elizabeth Cummings and Robert A. Hegele

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9090

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      Determination of β2-adrenergic receptor (ADRB2) haplotypes by a multiplexed polymerase chain reaction assay (page 479)

      Mathew D. Littlejohn, D. Robin Taylor, Allison L. Miller and Martin A. Kennedy

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9091

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      Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients (pages 479–480)

      Karin Michels-Rautenstrauss, Christian Mardin, Nina Wakili, Anselm M. Jünemann, Luis Villalobos, Carlos Mejia, Gabriela Chavarria Soley, Jorge Azofeifa, Sevinc Özbey, Gottfried OH Naumann, Andre Reis and Bernd Rautenstrauss

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9092

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      Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL (page 480)

      S. Lucchiari, M.A. Donati, R. Parini, D. Melis, R. Gatti, N. Bresolin, G. Scarlato and G.P. Comi

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9093

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      Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia (pages 480–481)

      Michael P. Okoh, Leena Kainulainen, Kaarina Heiskanen, M. Nizam Isa, Kim Varming, Olli Ruuskanen and Mauno Vihinen

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9094

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      DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients (page 481)

      Mandy L. Heritage, John C. MacMillan and Gregory J. Anderson

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9095

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      Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons (pages 481–482)

      Piret Michelson, Christine Hartwig, Melitta Schachner, Andreas Gal, Andres Veske and Ulrich Finckh

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9096

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      Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases (page 482)

      Christina R. Hermos, Marjan Huizing, Muriel I. Kaiser-Kupfer and William A. Gahl

      Article first published online: 19 NOV 2002 | DOI: 10.1002/humu.9097

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