Journal article icon

Journal article

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

Abstract:

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...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/sj/ejhg.5200866

Authors


Journal:
EUROPEAN JOURNAL OF HUMAN GENETICS More from this journal
Volume:
10
Issue:
11
Pages:
773-+
Publication date:
2002-11-01
DOI:
ISSN:
1018-4813
Language:
English
Keywords:
Pubs id:
pubs:38460
UUID:
uuid:8d76fe44-da1a-424c-bdf1-4832be15e9ba
Local pid:
pubs:38460
Source identifiers:
38460
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP