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Titolo:
The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
Autore:
Ueno, S; Maruki, Y; Nakamura, M; Tomemori, Y; Kamae, K; Tanabe, H; Yamashita, Y; Matsuda, S; Kaneko, S; Sano, A;
Indirizzi:
Ehime Univ, Sch Med, Dept Neuropsychiat, Shigenobu, Ehime 79102, Japan Ehime Univ Shigenobu Ehime Japan 79102 iat, Shigenobu, Ehime 79102, Japan Matsuyama Red Cross Hosp, Dept Neurol, Matsuyama, Ehime, Japan Matsuyama Red Cross Hosp Matsuyama Ehime Japan , Matsuyama, Ehime, Japan Ehime Univ, Sch Med, Dept Anat, Shigenobu, Ehime, Japan Ehime Univ Shigenobu Ehime Japan Med, Dept Anat, Shigenobu, Ehime, Japan Hirosaki Univ, Sch Med, Dept Neuropsychiat, Hirosaki, Aomori 036, Japan Hirosaki Univ Hirosaki Aomori Japan 036 hiat, Hirosaki, Aomori 036, Japan
Titolo Testata:
NATURE GENETICS
fascicolo: 2, volume: 28, anno: 2001,
pagine: 121 - 122
SICI:
1061-4036(200106)28:2<121:TGEAND>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKAGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Sano, A Ehime Univ, Sch Med, Dept Neuropsychiat, Shigenobu, Ehime 79102, Japan Ehime Univ Shigenobu Ehime Japan 79102 genobu, Ehime 79102, Japan
Citazione:
S. Ueno et al., "The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis", NAT GENET, 28(2), 2001, pp. 121-122

Abstract

Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis'. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found(2). We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which wecalled 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/04/20 alle ore 09:13:00