Human Mutation

Cover image for Human Mutation

April 2006

Volume 27, Issue 4

Pages 297–389

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
  2. Databases

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    1. You have free access to this content
      dbRIP: A highly integrated database of retrotransposon insertion polymorphisms in humans (pages 323–329)

      Jianxin Wang, Lei Song, Deepak Grover, Sami Azrak, Mark A. Batzer and Ping Liang

      Version of Record online: 1 MAR 2006 | DOI: 10.1002/humu.20307

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    1. Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity (pages 330–336)

      Flora Peyvandi, Silvia Lavoretano, Roberta Palla, Carla Valsecchi, Giuliana Merati, Raimondo De Cristofaro, Edoardo Rossi and Pier Mannuccio Mannucci

      Version of Record online: 1 FEB 2006 | DOI: 10.1002/humu.20267

    2. Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD) (pages 337–342)

      Paul N. Baird, Andrea J. Richardson, Luba D. Robman, Peter N. Dimitrov, Gabriella Tikellis, Catherine A. McCarty and Robyn H. Guymer

      Version of Record online: 1 FEB 2006 | DOI: 10.1002/humu.20288

    3. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia (pages 343–352)

      Shigeo Kure, Kumi Kato, Agirios Dinopoulos, Chuck Gail, Ton J. deGrauw, John Christodoulou, Vladimir Bzduch, Rozalia Kalmanchey, Gyorgy Fekete, Alex Trojovsky, Barbara Plecko, Galen Breningstall, Jun Tohyama, Yoko Aoki and Yoichi Matsubara

      Version of Record online: 31 JAN 2006 | DOI: 10.1002/humu.20293

    4. DLG5 variants contribute to Crohn disease risk in a Canadian population (pages 353–358)

      William G. Newman, Xiangjun Gu, Richard F. Wintle, Xiangdong Liu, Mark van Oene, Christopher I. Amos and Katherine A. Siminovitch

      Version of Record online: 31 JAN 2006 | DOI: 10.1002/humu.20301

    5. Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure–function correlations of αIIbβ3 integrin (ITGA2B, ITGB3) (pages 359–369)

      Hava Peretz, Nurit Rosenberg, Meytal Landau, Saly Usher, Everette J.R. Nelson, Ronit Mor-Cohen, Deborah L. French, Beau W. Mitchell, Sukesh C. Nair, Mammen Chandy, Barry S. Coller, Alok Srivastava and Uri Seligsohn

      Version of Record online: 3 FEB 2006 | DOI: 10.1002/humu.20304

    6. A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient (pages 370–375)

      Wei Du, Satoru Kumaki, Toru Uchiyama, Akihiro Yachie, Chung Yeng Looi, Shin Kawai, Masayoshi Minegishi, Narayanaswamy Ramesh, Raif S. Geha, Yoji Sasahara and Shigeru Tsuchiya

      Version of Record online: 1 MAR 2006 | DOI: 10.1002/humu.20308

  4. Methods

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    1. You have free access to this content
      Determination of genomic copy number with quantitative microsphere hybridization (pages 376–386)

      Heather L. Newkirk, Peter K. Rogan, Mauricio Miralles and Joan H.M. Knoll

      Version of Record online: 15 MAR 2006 | DOI: 10.1002/humu.20312

  5. Erratum

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

    1. Top of page
    2. Review Articles
    3. Databases
    4. Research Articles
    5. Methods
    6. Erratum
    7. Mutations in Brief
    1. You have free access to this content
      Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) (page 388)

      Lili Li, Susan McVety, Rami Younan, Ping Liang, Desirée Du Sart, Philip H. Gordon, Pierre Hutter, Frans B.L. Hogervorst, George Chong and William D. Foulkes

      Version of Record online: 15 MAR 2006 | DOI: 10.1002/humu.9417

    2. You have free access to this content
      Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome (page 388)

      Leomar Y. Ballester, D. Woodrow Benson, Brenda Wong, Ian H. Law, Katherine D. Mathews, Carlos G. Vanoye and Alfred L. George Jr.

      Version of Record online: 15 MAR 2006 | DOI: 10.1002/humu.9418

    3. You have free access to this content
      Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy (page 389)

      Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fedirko, Stéphanie Baulac, Cécile Saint-Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel-An and Eric Leguern

      Version of Record online: 15 MAR 2006 | DOI: 10.1002/humu.9419

    4. You have free access to this content
      Novel JARID1C/SMCX mutations in patients with X-linked mental retardation (page 389)

      Andreas Tzschach, Steffen Lenzner, Bettina Moser, Richard Reinhardt, Jamel Chelly, Jean-Pierre Fryns, Tjitske Kleefstra, Martine Raynaud, Gillian Turner, Hans-Hilger Ropers, Andreas Kuss and Lars Riff Jensen

      Version of Record online: 15 MAR 2006 | DOI: 10.1002/humu.9420

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