Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

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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...

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Main Authors: Dobson-Stone, C, Danek, A, Rampoldi, L, Hardie, R, Chalmers, R, Wood, N, Bohlega, S, Dotti, M, Federico, A, Shizuka, M, Tanaka, M, Watanabe, M, Ikeda, Y, Brin, M, Goldfarb, L, Karp, B, Mohiddin, S, Fananapazir, L, Storch, A, Fryer, A, Maddison, P, Sibon, I, Trevisol-Bittencourt, P, Singer, C, Caballero, I
Format: Journal article
Jezik:English
Izdano: 2002

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