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Nat Genet. 2001 Jun;28(2):121-2.

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.

Author information

  • 1Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan.

Abstract

Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.

PMID:
11381254
[PubMed - indexed for MEDLINE]
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