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

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

Show other versions (1)

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...

全面介紹

書目詳細資料
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
格式: Journal article
語言:English
出版: 2002

相似書籍