Human Mutation

Cover image for Human Mutation

April 2005

Volume 25, Issue 4

Pages 327–413

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Hellenic National Mutation Database: a prototype database for mutations leading to inherited disorders in the Hellenic population (pages 327–333)

      George P. Patrinos, Sjozef van Baal, Michael B. Petersen and Manoussos N. Papadakis

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20157

    2. Automated splicing mutation analysis by information theory (pages 334–342)

      Vijay K. Nalla and Peter K. Rogan

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20151

  2. Rapid Communication

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl (pages 343–347)

      Niels Teich, Zsófia Nemoda, Henrik Köhler, Wolfram Heinritz, Joachim Mössner, Volker Keim and Miklós Sahin-Tóth

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20148

    2. Bovine model of Marfan syndrome results from an amino acid change (c.3598G>A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1 (pages 348–352)

      Annie C. Singleton, Anna L. Mitchell, Peter H. Byers, Kathleen A. Potter and James M. Pace

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20152

  3. Research Article

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Polymorphism in the nuclear excision repair gene ERCC2/XPD: association between an exon 6–exon 10 haplotype and susceptibility to cutaneous basal cell carcinoma (pages 353–359)

      Tracy Lovatt, Julie Alldersea, John T. Lear, Paul R. Hoban, Sudarshan Ramachandran, Anthony A. Fryer, Andrew G. Smith and Richard C. Strange

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20158

  4. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Misprocessing of the CFTR protein leads to mild cystic fibrosis phenotype (pages 360–371)

      Jérôme Clain, Jacqueline Lehmann-Che, Ingrid Duguépéroux, Nicole Arous, Emmanuelle Girodon, Marie Legendre, Michel Goossens, Aleksander Edelman, Marc de Braekeleer, Jacques Teulon and Pascale Fanen

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20156

    2. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation (pages 372–383)

      Gulam Mustafa Saifi, Kinga Szigeti, Wojciech Wiszniewski, Michael E. Shy, Karen Krajewski, Irena Hausmanowa-Petrusewicz, Andrzej Kochanski, Suzanne Reeser, Pedro Mancias, Ian Butler and James R. Lupski

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20153

  5. Research Article

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Mutation analysis of the HOX paralogous 4–13 genes in children with acute lymphoid malignancies: Identification of a novel germline mutation of HOXD4 leading to a partial loss-of-function (pages 384–395)

      Virginie van Scherpenzeel Thim, Sophie Remacle, Jacques Picard, Guy Cornu, Françoise Gofflot, René Rezsohazy and Christine Verellen-Dumoulin

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20155

  6. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. Conservation of the RB1 gene in human and primates (pages 396–409)

      Theru A. Sivakumaran, Peidong Shen, Dennis P. Wall, Bao H. Do, Kiran Kucheria and Peter J. Oefner

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.20154

  7. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communication
    4. Research Article
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Mutations in Brief
    1. You have free access to this content
      Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene (page 410)

      Maria Pia Sperandeo, Patrizia Annunziata, Virginia Ammendola, Valentina Fiorito, Antonio Pepe, Maria Virginia Soldovieri, Maurizio Taglialatela, Generoso Andria and Gianfranco Sebastio

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9323

    2. You have free access to this content
      Identification of novel mutations in patients with Shwachman-Diamond syndrome (page 410)

      Elena Nicolis, Alberto Bonizzato, Baroukh M. Assael and Marco Cipolli

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9324

    3. You have free access to this content
      Identification of ten novel mutations in patients with eIF2B-related disorders (page 411)

      Andreas Ohlenbusch, Marco Henneke, Knut Brockmann, Maria Goerg, Folker Hanefeld, Alfried Kohlschütter and Jutta Gärtner

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9325

    4. You have free access to this content
      Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis (page 411)

      Julia Hoefele, Ralf Sudbrak, Richard Reinhardt, Silvia Lehrack, Steffen Hennig, Anita Imm, Ulla Muerb, Boris Utsch, Massimo Attanasio, John F. O'Toole, Edgar Otto and Friedhelm Hildebrandt

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9326

    5. You have free access to this content
      Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease (page 412)

      Ellen Schäfer, Karin Baron, Urs Widmer, Patrick Deegan, Hartmut P.H. Neumann, Gere Sunder-Plassmann, Jan-Ove Johansson, Catharina Whybra, Markus Ries, Gregory M. Pastores, Atul Mehta, Michael Beck and Andreas Gal

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9327

    6. You have free access to this content
      Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy (page 412)

      M. Witsch-Baumgartner, P. Clayton, N. Clusellas, D. Haas, R.I. Kelley, M. Krajewska-Walasek, S. Lechner, M. Rossi, J. Zschocke and G. Utermann

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9328

    7. You have free access to this content
      Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates (page 413)

      Barry Wolf, Kevin P. Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, David R. Goudie, Gulden Huner Gokcay, Mubeccel Demirkol, Tolunay Baykal, F. Demir, Sharon Quary, Ling Yu Shih, Helio F. Pedro, Tsui-hua H. Chen and Alfred E. Slonim

      Article first published online: 17 MAR 2005 | DOI: 10.1002/humu.9329

SEARCH

SEARCH BY CITATION