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

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

Toon andere (1) versies

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...

Volledige beschrijving

Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Journal article
Taal:English
Gepubliceerd in: 2002

Gelijkaardige items

Gelijkaardige items