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Publication Detail
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Dobson-Stone C, Danek A, Rampoldi L, Hardie RJ, Chalmers RM, Wood NW, Bohlega S, Dotti MT, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb LG, Karp BI, Mohiddin S, Fananapazir L, Storch A, Fryer AE, Maddison P, Sibon I, Trevisol-Bittencourt PC, Singer C, Caballero IR, Aasly JO, Schmierer K, Dengler R, Hiersemenzel LP, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado FC, Sorrentino G, Dupre N, Rouleau GA, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Nemeth A, Monaco AP
  • Publisher:
    NATURE PUBLISHING GROUP
  • Publication date:
    01/11/2002
  • Pagination:
    773, +
  • Journal:
    EUROPEAN JOURNAL OF HUMAN GENETICS
  • Volume:
    10
  • Issue:
    11
  • Status:
    Published
  • Print ISSN:
    1018-4813
  • Language:
    English
  • Keywords:
    Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, choreoacanthocytosis, neuroacanthocytosis, mutational spectrum, CHAC, chorein, PROTEIN, NEUROACANTHOCYTOSIS, LOCALIZATION, KEX2P
  • Addresses:
    University of Oxford
    Wellcome Trust Ctr Human Genet
    Oxford
    England
    OX3 7BN

    University of Munich
    Neurol Klin
    Munich
    Germany

    Human Mol Genet Unit
    DIBIT
    Milan
    Italy

    St Georges & Atkinson Morleys Hosp
    London
    England

    Inst Neurol
    Dept Mol Pathogenesis
    London
    England

    King Faisal Specialist Hosp & Res Ctr
    Dept Neurosci
    Riyadh
    Saudi Arabia

    Res Ctr
    Riyadh
    Saudi Arabia

    University of Siena
    Inst Neurol Sci
    Neurometabol Unit
    Siena
    Italy
    I-53100

    Gunma University
    Sch Med
    Dept Neurol
    Maebashi
    Gumma
    Japan

    Allergan Pharmaceut Inc
    Irvine
    CA
    USA

    Mt Sinai Sch Med
    New York
    NY
    USA

    Natl Inst Neurol Disorders & Stroke
    NIH
    Bethesda
    MD
    USA

    Natl Heart Lung & Blood Inst
    Cardiovasc Branch
    Inherited Cardiac Dis Sect
    Bethesda
    MD
    USA

    Ulm University
    Dept Neurol
    Ulm
    Germany

    Royal Liverpool Childrens Hosp
    Dept Clin Genet
    Liverpool
    Merseyside
    England

    Pinderfields Hospital
    Dept Neurol
    Wakefield
    England

    Hop Pellegrin
    Fed Clin Neurosci
    Bordeaux
    France

    Miami Univ
    Sch Med
    Dept Neurol
    Miami
    FL
    USA

    Complexo Hosp Univ
    Hosp Conxo
    Secc Neurol
    Santiago De Compostela
    Spain

    Univ Hosp
    Dept Neurol
    Trondheim
    Norway

    Humboldt Univ
    Charite
    Klin & Poliklin Neurol
    Berlin
    Germany

    Sch Med
    Dept Neurol
    Hannover
    Germany

    Psychiat Klin Oberwil
    Oberwil
    Switzerland

    Ist Nazl Neurol C Besta
    Milan
    Italy

    Hadassah Univ Hosp
    Dept Human Genet
    Jerusalem
    Israel

    Hadassah Univ Hosp
    Dept Neurol
    Jerusalem
    Israel

    Akershus Univ
    Nordbyhagen
    Norway

    University of Buenos Aires
    Fac Med
    Buenos Aires
    DF
    Argentina
    RA-1053

    Univ Naples
    Fac Sci Movement
    Naples
    Italy
    I-80138

    McGill University
    Ctr Res Neurosci
    Montreal
    PQ
    Canada
    H3A 2T5

    McGill University
    Hlth Ctr
    Res Inst
    Montreal
    PQ
    Canada

    University of Kiel
    Neurol Klin
    Kiel
    Germany
    D-2300

    Hospital Universitario La Paz
    Serv Neurol
    Madrid
    Spain

    Royal Free & UCL Sch Med
    Reta Lila Weston Inst Neurol Studies
    Windeyer Med Inst
    London
    England

    CHU Rangueil
    Dept Neurol
    Toulouse
    France

    CHUM Hotel Dieu
    Unite Troubles Mouvement Andre Barbeau
    Montreal
    PQ
    Canada

    Churchill Hosp
    Dept Clin Genet
    Oxford
    England
Abstract
No abstract found
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