Human Mutation

Cover image for Human Mutation

December 2004

Volume 24, Issue 6

Pages 443–537

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. LDL-receptor mutations in Europe (pages 443–459)

      George V.Z. Dedoussis, Hartmut Schmidt and Janine Genschel

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20105

  2. Rapid Communications

    1. Top of page
    2. Review Articles
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV (pages 460–465)

      Ehud Goldin, Stefanie Stahl, Adele M. Cooney, Christine R. Kaneski, Surya Gupta, Roscoe O. Brady, James R. Ellis and Raphael Schiffmann

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20094

    2. Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C (pages 466–473)

      Leida B. Rozeman, Luca Sangiorgi, Inge H. Briaire-de Bruijn, Pierre Mainil-Varlet, F. Bertoni, Anne Marie Cleton-Jansen, Pancras C.W. Hogendoorn and Judith V.M.G. Bovée

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20095

    3. A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a) (pages 474–480)

      Walther Parson, Hans Georg Kraft, Harald Niederstätter, Arnulf W. Lingenhel, Silvano Köchl, Friedrich Fresser and Gerd Utermann

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20101

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population (pages 481–490)

      Hiroshi Yagasaki, Satoshi Hamanoue, Tsukasa Oda, Tatsutoshi Nakahata, Shigetaka Asano and Takayuki Yamashita

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20099

    2. Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1 (pages 491–501)

      Andrea Zatkova, Ludwine Messiaen, Ina Vandenbroucke, Rotraud Wieser, Christa Fonatsch, Adrian R. Krainer and Katharina Wimmer

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20103

    3. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism (pages 509–516)

      Jordan P. Lerner-Ellis, C. Melissa Dobson, Timothy Wai, David Watkins, Jamie C. Tirone, Daniel Leclerc, Carole Doré, Pierre Lepage, Roy A. Gravel and David S. Rosenblatt

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20104

    4. High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging (pages 517–525)

      Richard J. N. Allcock, Lydia Windsor, Ivo G. Gut, Ramon Kucharzak, Laetitia Sobre, Doris Lechner, Jean-Guillaume Garnier, Svetlana Baltic, Frank T. Christiansen and Patricia Price

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20100

    5. Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia (pages 526–533)

      Andrew Chatr-aryamontri, Mara Angelini, Emanuela Garelli, Gil Tchernia, Ugo Ramenghi, Irma Dianzani and Fabrizio Loreni

      Version of Record online: 2 NOV 2004 | DOI: 10.1002/humu.20117

  4. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. You have free access to this content
      Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene (page 534)

      Gabriella Esposito, Rita Santamaria, Luigi Vitagliano, Luigi Ieno, Antonietta Viola, Laura Fiori, Giancarlo Parenti, Lucia Zancan, Adriana Zagari and Francesco Salvatore

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9290

    2. You have free access to this content
      Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families (page 534)

      Carolin Hartmann, Anika L. John, Rüdiger Klaes, Wera Hofmann, Rainer Bielen, Rolf Koehler, Bart Janssen, Claus R. Bartram, Norbert Arnold and Johannes Zschocke

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9291

    3. You have free access to this content
      Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia (pages 534–535)

      Lorenzo Sinibaldi, Alessandro De Luca, Emanuele Bellacchio, Emanuela Conti, Augusto Pasini, Claudio Paloscia, Gianfranco Spalletta, Carlo Caltagirone, Antonio Pizzuti and Bruno Dallapiccola

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9292

    4. You have free access to this content
      A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site (page 535)

      Stephan Tiede, Michael Cantz, Annick Raas-Rothschild, Nicole Muschol, Friederike Bürger, Kurt Ullrich and Thomas Braulke

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9293

    5. You have free access to this content
      Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients (pages 535–536)

      Sally Chappell, Tamar Guetta-Baranés, Kathryn Batowski, Eftihia Yiannakis, Kevin Morgan, Clare O'Connor, William MacNee and Noor Kalsheker

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9294

    6. You have free access to this content
      A novel mutation in KCNA1 causes episodic ataxia without myokymia (page 536)

      Hane Lee, Hui Wang, Joanna C. Jen, Chiara Sabatti, Robert W. Baloh and Stanley F. Nelson

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9295

    7. You have free access to this content
      Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis (pages 536–537)

      T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone and A. D'Azzo

      Version of Record online: 5 NOV 2004 | DOI: 10.1002/humu.9296

SEARCH

SEARCH BY CITATION