Human Mutation

Cover image for Human Mutation

October 2008

Volume 29, Issue 10

Pages 1169–1260

  1. Editorials

    1. Top of page
    2. Editorials
    3. Research Articles
    4. Methods
    1. You have free access to this content
      In memoriam: Victor A. McKusick (1921–2008) (pages 1169–1170)

      Richard G.H. Cotton, Haig H. Kazazian Jr., Garry R. Cutting and Mark H. Paalman

      Version of Record online: 16 SEP 2008 | DOI: 10.1002/humu.20890

  2. Research Articles

    1. Top of page
    2. Editorials
    3. Research Articles
    4. Methods
    1. Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis (pages 1171–1180)

      Patricia Balaresque, Georgina R. Bowden, Emma J. Parkin, Ghada A. Omran, Evelyne Heyer, Lluis Quintana-Murci, Lutz Roewer, Mark Stoneking, Ivan Nasidze, Denise R. Carvalho-Silva, Chris Tyler-Smith, Peter de Knijff and Mark A. Jobling

      Version of Record online: 9 MAY 2008 | DOI: 10.1002/humu.20757

    2. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy (pages 1194–1208)

      Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John J. DiGiovanna and Kenneth H. Kraemer

      Version of Record online: 9 MAY 2008 | DOI: 10.1002/humu.20768

    3. An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism (pages 1209–1216)

      Libin Deng, Yuezheng Zhang, Jian Kang, Tao Liu, Hongbin Zhao, Yang Gao, Chaohua Li, Hao Pan, Xiaoli Tang, Dunmei Wang, Tianhua Niu, Huanming Yang and Changqing Zeng

      Version of Record online: 12 MAY 2008 | DOI: 10.1002/humu.20775

    4. Further evidence for allelic heterogeneity in Hartnup disorder (pages 1217–1221)

      Dimitar N. Azmanov, Sonja Kowalczuk, Helen Rodgers, Christiane Auray-Blais, Robert Giguère, John E.J. Rasko, Stefan Bröer and Juleen A. Cavanaugh

      Version of Record online: 15 MAY 2008 | DOI: 10.1002/humu.20777

    5. Investigation of citrullinemia type I variants by in vitro expression studies (pages 1222–1227)

      Christoph Berning, Iris Bieger, Silke Pauli, Tim Vermeulen, Thomas Vogl, Till Rummel, Wolfgang Höhne, Hans Georg Koch, Boris Rolinski, Klaus Gempel and Johannes Häberle

      Version of Record online: 12 MAY 2008 | DOI: 10.1002/humu.20784

    6. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia (pages 1228–1236)

      Peggy Reuter, Katja Koeppen, Thomas Ladewig, Susanne Kohl, Britta Baumann and Bernd Wissinger

      Version of Record online: 2 JUN 2008 | DOI: 10.1002/humu.20790

    7. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients (pages 1237–1246)

      Clelia Prattichizzo, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra and Brunella Franco

      Version of Record online: 10 JUN 2008 | DOI: 10.1002/humu.20792

  3. Methods

    1. Top of page
    2. Editorials
    3. Research Articles
    4. Methods
    1. High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes (pages 1247–1254)

      Marco Groth, Karol Szafranski, Stefan Taudien, Klaus Huse, Oliver Mueller, Philip Rosenstiel, Anders O.H. Nygren, Stefan Schreiber, Gerd Birkenmeier and Matthias Platzer

      Version of Record online: 9 MAY 2008 | DOI: 10.1002/humu.20751