Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

1998

Volume 12, Issue 6

Pages 367–435

  1. Meeting Report

    1. Top of page
    2. Meeting Report
    3. Articles
    4. Letters to the Editor
    5. Mutations In Brief
    6. Mutation and Polymorphism Report
    1. Mutation Database Meeting, 27th March 1998 (pages 367–369)

      Arleen D. Auerbach and Richard G. H. Cotton

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<367::AID-HUMU1>3.0.CO;2-R

  2. Articles

    1. Top of page
    2. Meeting Report
    3. Articles
    4. Letters to the Editor
    5. Mutations In Brief
    6. Mutation and Polymorphism Report
    1. Mutation analysis of Wilson disease in Taiwan and description of six new mutations (pages 370–376)

      Chang-Hai Tsai, Fuu-Jen Tsai, Jer-Yuarn Wu, Jang-Gowth Chang, Cheng-Chun Lee, Shuan-Pei Lin, Chi-Fan Yang, Yuh-Jyh Jong and Man-Chi Lo

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.0.CO;2-S

    2. Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome (pages 377–384)

      Anna Sillén, Ingrun Anton-Lamprecht, Cordula Braun-Quentin, Cornelia S. Kraus, Bekir Sitki Sayli, Carmen Ayuso, Sten Jagell, Wolfgang Küster and Claes Wadelius

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I

    3. Genotype-phenotype analysis in four families with mutations in β-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy (pages 385–392)

      Frédérique Tesson, Pascale Richard, Philippe Charron, Bénédicte Mathieu, Corinne Cruaud, Lucie Carrier, Olivier Dubourg, Nicole Lautié, Michel Desnos, Alain Millaire, Richard Isnard, Alain Albert Hagege, Jean-Brieuc Bouhour, Mohammed Bennaceur, Bernard Hainque, Pascale Guicheney, Ketty Schwartz and Michel Komajda

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<385::AID-HUMU4>3.0.CO;2-E

    4. Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene (pages 393–402)

      Shari L. Laprise, Elsa K. Mak, Katherine A. Killoran, Lawrence C. Layman and Mark R. Gray

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A

    5. Identification and characterisation of a deletion (537delAT) in the protoporphyrinogen oxidase gene in a South African variegate porphyria family (pages 403–407)

      Anne V. Corrigall, Richard J. Hift, Valerie Hancock, Doreen Meissner, Lester Davids, Ralph E. Kirsch and Peter N. Meissner

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<403::AID-HUMU6>3.0.CO;2-X

    6. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis (pages 408–416)

      Roberta L. Beauchamp, Ashleigh Banwell, Patrick McNamara, Matthew Jacobsen, Erica Higgins, Hope Northrup, Priscilla Short, Katherine Sims, Laurie Ozelius and Vijaya Ramesh

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<408::AID-HUMU7>3.0.CO;2-P

    7. Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene (pages 417–423)

      Catherine Stolle, Gladys Glenn, Berton Zbar, Jeffrey S. Humphrey, Peter Choyke, McClellan Walther, Svetlanna Pack, Kathy Hurley, Carolyn Andrey, Richard Klausner and W. Marston Linehan

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.0.CO;2-K

    8. Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma (pages 424–430)

      Sylviane Olschwang, Stéphane Richard, Cécile Boisson, Sophie Giraud, Pierre Laurent-Puig, François Resche and Gilles Thomas

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<424::AID-HUMU9>3.0.CO;2-H

  3. Letters to the Editor

    1. Top of page
    2. Meeting Report
    3. Articles
    4. Letters to the Editor
    5. Mutations In Brief
    6. Mutation and Polymorphism Report
    1. Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome (page 431)

      JB Vincent and Hugh M. D. Gurling

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<431::AID-HUMU10>3.0.CO;2-Y

    2. Response to Vincent and Gurling (page 432)

      Yi-Chun Wang and Shuan-Yow Li

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<432::AID-HUMU11>3.0.CO;2-S

  4. Mutations In Brief

    1. Top of page
    2. Meeting Report
    3. Articles
    4. Letters to the Editor
    5. Mutations In Brief
    6. Mutation and Polymorphism Report
    1. Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (Mucopolysaccharidosis type II) patients (page 433)

      Stanislav L. Karsten, Elena Voskoboeva, Britt-Marie Carlberg, Wim J. Kleijer, T Tönnesen, Ulf Pettersson and Marie-Louise Bondeson

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU12>3.0.CO;2-M

    2. Hereditary nonpolyposis colorectal cancer: Identification of novel germline mutations in two kindreds not fulfilling the Amsterdam criteria (page 433)

      Barbara Quaresima, Cristina Grandinetti, Francesco Baudi, PierFrancesco Tassone, Vito Barbieri, Serafino Conforti, Enrico V. Avvedimento, Francesco Costanzo and Salvatore Venuta

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU13>3.0.CO;2-J

    3. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1) (pages 433–434)

      WS Oetting, JP Fryer and RA King

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<433::AID-HUMU14>3.0.CO;2-G

    4. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2) (page 434)

      WS Oetting, JM Gardner, JP Fryer, A Ching, D Durham-Pierre, RA King and MH Brilliant

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU15>3.0.CO;2-A

    5. Twelve novel RB1 gene mutations in patients with hereditary retinoblastoma (page 434)

      S Yilmaz, B Horsthemke and DR Lohmann

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<434::AID-HUMU16>3.0.CO;2-7

  5. Mutation and Polymorphism Report

    1. Top of page
    2. Meeting Report
    3. Articles
    4. Letters to the Editor
    5. Mutations In Brief
    6. Mutation and Polymorphism Report
    1. Description of a novel RFLP diallelic polymorphism (-127 BsgI C/G) within the 5′ region of insulin gene (page 435)

      Isabelle Fajardy, Jacques Weill, Chantal Stuckens, Pierre-Marie Danzé and the CCB group

      Article first published online: 7 JAN 1999 | DOI: 10.1002/(SICI)1098-1004(1998)12:6<435::AID-HUMU17>3.0.CO;2-1

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