• Issue
    2004
    443-537
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Review Article
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LDL-receptor mutations in Europe†

George V.Z. Dedoussis,  Hartmut Schmidt,  Janine Genschel, 
  • Pages: 443-459
  • First Published: 02 November 2004

Rapid Communication
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Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV†

Ehud Goldin,  Stefanie Stahl,  Adele M. Cooney,  Christine R. Kaneski,  Surya Gupta,  Roscoe O. Brady,  James R. Ellis,  Raphael Schiffmann, 
  • Pages: 460-465
  • First Published: 02 November 2004
Rapid Communication
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Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C†

Leida B. Rozeman,  Luca Sangiorgi,  Inge H. Briaire-de Bruijn,  Pierre Mainil-Varlet,  F. Bertoni,  Anne Marie Cleton-Jansen,  Pancras C.W. Hogendoorn,  Judith V.M.G. Bovée, 
  • Pages: 466-473
  • First Published: 02 November 2004
Rapid Communication
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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) †

Walther Parson,  Hans Georg Kraft,  Harald Niederstätter,  Arnulf W. Lingenhel,  Silvano Köchl,  Friedrich Fresser,  Gerd Utermann, 
  • Pages: 474-480
  • First Published: 02 November 2004

Research Article
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Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population†‡

Hiroshi Yagasaki,  Satoshi Hamanoue,  Tsukasa Oda,  Tatsutoshi Nakahata,  Shigetaka Asano,  Takayuki Yamashita, 
  • Pages: 481-490
  • First Published: 02 November 2004
Research Article
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Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1†‡

Andrea Zatkova,  Ludwine Messiaen,  Ina Vandenbroucke,  Rotraud Wieser,  Christa Fonatsch,  Adrian R. Krainer,  Katharina Wimmer, 
  • Pages: 491-501
  • First Published: 02 November 2004
Research Article
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Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: Interaction with the nuclear receptor NR4A3/NOR1†

Cynthia Laflamme,  Christine Filion,  Yves Labelle, 
  • Pages: 502-508
  • First Published: 02 November 2004
Research Article
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Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism†

Jordan P. Lerner-Ellis,  C. Melissa Dobson,  Timothy Wai,  David Watkins,  Jamie C. Tirone,  Daniel Leclerc,  Carole Doré,  Pierre Lepage,  Roy A. Gravel,  David S. Rosenblatt, 
  • Pages: 509-516
  • First Published: 02 November 2004
Research Article
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High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: Implications for haplotype tagging†‡

Richard J. N. Allcock,  Lydia Windsor,  Ivo G. Gut,  Ramon Kucharzak,  Laetitia Sobre,  Doris Lechner,  Jean-Guillaume Garnier,  Svetlana Baltic,  Frank T. Christiansen,  Patricia Price, 
  • Pages: 517-525
  • First Published: 02 November 2004
Research Article
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Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia†

Andrew Chatr-aryamontri,  Mara Angelini,  Emanuela Garelli,  Gil Tchernia,  Ugo Ramenghi,  Irma Dianzani,  Fabrizio Loreni, 
  • Pages: 526-533
  • First Published: 02 November 2004

Mutation in Brief
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Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene†‡

Gabriella Esposito,  Rita Santamaria,  Luigi Vitagliano,  Luigi Ieno,  Antonietta Viola,  Laura Fiori,  Giancarlo Parenti,  Lucia Zancan,  Adriana Zagari,  Francesco Salvatore, 
  • Page: 534
  • First Published: 05 November 2004
Mutation in Brief
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Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families†‡

Carolin Hartmann,  Anika L. John,  Rüdiger Klaes,  Wera Hofmann,  Rainer Bielen,  Rolf Koehler,  Bart Janssen,  Claus R. Bartram,  Norbert Arnold,  Johannes Zschocke, 
  • Page: 534
  • First Published: 05 November 2004
Mutation in Brief
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Mutations of the Nogo-66 receptor (RTN4R) gene in schizophrenia†‡

Lorenzo Sinibaldi,  Alessandro De Luca,  Emanuele Bellacchio,  Emanuela Conti,  Augusto Pasini,  Claudio Paloscia,  Gianfranco Spalletta,  Carlo Caltagirone,  Antonio Pizzuti,  Bruno Dallapiccola, 
  • Pages: 534-535
  • First Published: 05 November 2004
Mutation in Brief
Free Access

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site†‡

Stephan Tiede,  Michael Cantz,  Annick Raas-Rothschild,  Nicole Muschol,  Friederike Bürger,  Kurt Ullrich,  Thomas Braulke, 
  • Page: 535
  • First Published: 05 November 2004
Mutation in Brief
Free Access

Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patients†‡

Sally Chappell,  Tamar Guetta-Baranés,  Kathryn Batowski,  Eftihia Yiannakis,  Kevin Morgan,  Clare O'Connor,  William MacNee,  Noor Kalsheker, 
  • Pages: 535-536
  • First Published: 05 November 2004
Mutation in Brief
Free Access

A novel mutation in KCNA1 causes episodic ataxia without myokymia†‡

Hane Lee,  Hui Wang,  Joanna C. Jen,  Chiara Sabatti,  Robert W. Baloh,  Stanley F. Nelson, 
  • Page: 536
  • First Published: 05 November 2004
Mutation in Brief
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Erratum: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis†‡§

T. Georgiou,  A. Drousiotou,  Y. Campos,  A. Caciotti,  L. Sztriha,  A. Gururaj,  P. Ozand,  E. Zammarchi,  A. Morrone,  A. D'Azzo, 
  • Pages: 536-537
  • First Published: 05 November 2004