Article
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.
European journal of human genetics : EJHG - 1 Nov 2002
Dobson-Stone C, Danek A, Rampoldi L, Hardie R J, Chalmers R M, Wood N W, Bohlega S, Dotti M T, Federico A, Shizuka M, Tanaka M, Watanabe M, Ikeda Y, Brin M, Goldfarb L G, Karp B I, Mohiddin S, Fananapazir L, Storch A, Fryer A E, Maddison P, Sibon I, Trevisol-Bittencourt P C, Singer C, Caballero I R, Aasly J O, Schmierer K, Dengler R, Hiersemenzel L-P, Zeviani M, Meiner V, Lossos A, Johnson S, Mercado F C, Sorrentino G, Dupré N, Rouleau G A, Volkmann J, Arpa J, Lees A, Geraud G, Chouinard S, Németh A, Monaco A P
Abstract excerpt
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. Mutations in the CHAC gene on 9q21 were recently found to cause chorea-acanthocytosis. CHAC encodes a large, novel protein with a yeast homologue implicated in protein sorting. In this study, all 73 exons plus flanking intronic sequence...
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