Human Mutation

Cover image for Human Mutation

August 2002

Volume 20, Issue 2

Pages 81–152

  1. Databases

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. The UMD-LDLR database: additions to the software and 490 new entries to the database (pages 81–87)

      Ludovic Villéger, Marianne Abifadel, Delphine Allard, Jean-Pierre Rabès, Rochelle Thiart, Maritha J. Kotze, Christophe Béroud, Claudine Junien, Catherine Boileau and Mathilde Varret

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10102

  2. Research Articles

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes (pages 88–97)

      Rachel L. Robinson, Collin Brooks, Sarah L. Brown, F. Richard Ellis, P. Jane Halsall, Rupert J. Quinnell, Marie-Anne Shaw and Philip M. Hopkins

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10098

    2. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease (pages 98–109)

      Bent N. Terp, David N. Cooper, Inge T. Christensen, Flemming S. Jørgensen, Peter Bross, Niels Gregersen and Michael Krawczak

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10095

    3. Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia (pages 110–116)

      Pin Yue, Bo Yuan, Daniela S. Gerhard, Rosalind J. Neuman, William L. Isley, William S. Harris and Gustav Schonfeld

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10101

    4. The molecular basis of cystathionine β-synthase deficiency in Australian patients: Genotype–phenotype correlations and response to treatment (pages 117–126)

      Mette Gaustadnes, Bridget Wilcken, Jana Oliveriusova, Jim McGill, Janice Fletcher, Jan P. Kraus and David E. Wilcken

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10104

    5. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia (pages 127–132)

      S. Sauter, B. Miterski, S. Klimpe, D. Bönsch, L. Schöls, A. Visbeck, T. Papke, H.C. Hopf, W. Engel, T. Deufel, J.T. Epplen and J. Neesen

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10105

  3. Methods

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry (pages 133–138)

      Kenji Nakai, Wataru Habano, Takeshi Fujita, Keiko Nakai, Joerg Schnackenberg, Kohei Kawazoe, Akira Suwabe and Chuichi Itoh

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10099

    2. An amplification and ligation-based method to scan for unknown mutations in DNA (pages 139–147)

      Yuzhi Zhang, Manjit Kaur, Brendan D. Price, Sotirios Tetradis and G. Mike Makrigiorgos

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10106

  4. Letters to the Editor

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier? (pages 148–150)

      Anna Aldea, Jordi Casademont, Juan I. Aróstegui, Josefa Rius, Montserrat Masó, Jordi Vives and Jordi Yagüe

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.10103

  5. Mutations in Brief

    1. Top of page
    2. Databases
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. You have free access to this content
      Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia (page 151)

      Susanne Heimer, Thomas Langmann, Christoph Moehle, Richard Mauerer, Michael Dean, Frank-Ulrich Beil, Klaus von Bergmann and Gerd Schmitz

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.9047

    2. You have free access to this content
      Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome (pages 151–152)

      Koon-Wing Chan, Tsz-Leung Lee, Brian Hon-Yin Chung, Xiqiang Yang and Yu-Lung Lau

      Article first published online: 16 JUL 2002 | DOI: 10.1002/humu.9048

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