Human Mutation

Cover image for Human Mutation

July 2005

Volume 26, Issue 1

Pages 1–61

  1. Mutation Update

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
  2. Databases

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. InSNP: A tool for automated detection and visualization of SNPs and InDels (pages 11–19)

      Carl Manaster, Weiyue Zheng, Markus Teuber, Stefan Wächter, Frank Döring, Stefan Schreiber and Jochen Hampe

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.20188

  3. Research Articles

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. Niemann-Pick type C disease: Subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations (pages 20–28)

      Karim Chikh, Céline Rodriguez, Sébastien Vey, Marie T. Vanier and Gilles Millat

      Article first published online: 3 JUN 2005 | DOI: 10.1002/humu.20173

    2. TNF polymorphisms in Alzheimer disease and functional implications on CSF beta-amyloid levels (pages 29–35)

      Simon M. Laws, Robert Perneczky, Stefan Wagenpfeil, Ulrich Müller, Hans Förstl, Ralph N. Martins, Alexander Kurz and Matthias Riemenschneider

      Article first published online: 13 MAY 2005 | DOI: 10.1002/humu.20180

    3. The phenotypic spectrum of COL2A1 mutations (pages 36–43)

      Gen Nishimura, Nobuhiko Haga, Hiroshi Kitoh, Yoko Tanaka, Toru Sonoda, Miho Kitamura, Shuya Shirahama, Taichi Itoh, Eiji Nakashima, Hirofumi Ohashi and Shiro Ikegawa

      Article first published online: 13 MAY 2005 | DOI: 10.1002/humu.20179

    4. Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis (pages 44–52)

      Katja U. Schneider, Antonio Marchini, Nitin Sabherwal, Ralph Röth, Beate Niesler, Tiina Marttila, Rüdiger J. Blaschke, Margaret Lawson, Miroslav Dumic and Gudrun Rappold

      Article first published online: 1 JUN 2005 | DOI: 10.1002/humu.20187

  4. Methods

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
  5. Mutations in Brief

    1. Top of page
    2. Mutation Update
    3. Databases
    4. Research Articles
    5. Methods
    6. Mutations in Brief
    1. You have free access to this content
      Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS) (page 59)

      John S. Waye, Patrycja A. Krakowiak, Christopher A. Wassif, Allison L. Sterner, Barry Eng, Lisa M. Nakamura, Małgorzata J.M. Nowaczyk and Forbes D. Porter

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9346

    2. You have free access to this content
      Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis (page 59)

      Stefan J. White, Shirley Uitte de Willige, Dennis Verbove, Luisa Politano, Ieke Ginjaar, Martijn H. Breuning and Johan T. den Dunnen

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9347

    3. You have free access to this content
      Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression (pages 59–60)

      Nelson L.S. Tang, Weimin Zhang, G.A. Grabowski, K.F. To, Francis Y.M. Choy, S.L. Ma and H.P. Shi

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9348

    4. You have free access to this content
      Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome (page 60)

      Mato Nagel, Sylvia Nagorka and Oliver Gross

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9349

    5. You have free access to this content
      Mutation analysis of the GJB2 (Connexin 26) gene in Egypt (pages 60–61)

      Rikkert L. Snoeckx, Dalia M. Hassan, Nadia M. Kamal, Kris Van Den Bogaert and Guy Van Camp

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9350

    6. You have free access to this content
      Erratum: Sodium channel gene (SCN5A) mutations in 44 index patients with brugada syndrome: Different incidences in familial and sporadic disease (page 61)

      Eric Schulze-Bahr, Lars Eckardt, Günter Breithardt, Karlheinz Seidl, Thomas Wichter, Christian Wolpert, Martin Borggrefe and Wilhelm Haverkamp

      Article first published online: 13 JUN 2005 | DOI: 10.1002/humu.9351

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