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

Journal article

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 in CHAC were screened for mutations by denaturing high-performance liquid chromato...

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Authors: Dobson-Stone, C; Danek, A; Rampoldi, L; Hardie, R; Chalmers, R

• Journal: European journal of human genetics : EJHG
• Volume: 10
• Issue: 11
• Pages: 773-781
• Publication date: 2002-11-01
• DOI: 10.1038/sj.ejhg.5200866
• EISSN: 1476-5438
• ISSN: 1018-4813
• Language: English
• Keywords: Mutation; DNA Mutational Analysis; Humans; Vesicular Transport Proteins; Proteins; Exons; Polymorphism, Genetic; Chorea