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- Title
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.
- Authors
Ueno, S; Maruki, Y; Nakamura, M; Tomemori, Y; Kamae, K; Tanabe, H; Yamashita, Y; Matsuda, S; Kaneko, S; Sano, A
- 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.
- Publication
Nature genetics, 2001, Vol 28, Issue 2, p121
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/88825