Human Mutation

Copyright © 2012 Wiley Periodicals Inc.

Cover image for Human Mutation

June 2002

Volume 19, Issue 6

Pages 575–664

  1. Review Article

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Cystic fibrosis: A worldwide analysis of CFTR mutations—correlation with incidence data and application to screening (pages 575–606)

      Joseph L. Bobadilla, Milan Macek Jr, Jason P. Fine and Philip M. Farrell

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10041

  2. Databases

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. The IARC TP53 database: New online mutation analysis and recommendations to users (pages 607–614)

      Magali Olivier, Ros Eeles, Monica Hollstein, Mohammed A. Khan, Curtis C. Harris and Pierre Hainaut

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10081

    2. Arab genetic disease database (AGDDB): A population-specific clinical and mutation database (pages 615–621)

      Ahmad S. Teebi, Saeed A. Teebi, Christopher J. Porter and A. Jamie Cuticchia

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10082

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients (pages 622–628)

      Sumiko Inoue, Kayoko Inoue, Maki Utsunomiya, Jun-Ichi Nozaki, Yuichiro Yamada, Toshio Iwasa, Eitaro Mori, Takeo Yoshinaga and Akio Koizumi

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10080

    2. Propionic acidemia: Analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli (pages 629–640)

      Maja Chloupkova, Kenneth N. Maclean, Asem Alkhateeb and Jan P. Kraus

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10085

    3. High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine β-synthase (CBS) mutations (pages 641–655)

      Kenneth N. Maclean, Mette Gaustadnes, Jana Oliveriusová, Miroslav Janošík, Eva Kraus, Viktor Kožich, Vladimír Kery, Flemming Skovby, Niels Rüdiger, Jørgen Ingerslev, Sally P. Stabler, Robert H. Allen and Jan P. Kraus

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10089

  4. Methods

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis of BRCA1 exon 11 mutations in a high-risk breast cancer cohort (pages 656–663)

      Josef S. Herzog, Erik M. Jancis, Shidong Liao, George Somlo and Jeffrey N. Weitzel

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.10091

  5. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations (page 664)

      Nancy Gavert, Yuval Yaron, Tova Naiman, Dani Bercovich, Paul Rozen, Ruth Shomrat, Cyril Legum and Avi Orr-Urtreger

      Article first published online: 3 MAY 2002 | DOI: 10.1002/humu.9037

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