Mutations inKCND3cause spinocerebellar ataxia type 22
نویسندگان
چکیده
منابع مشابه
Mutations in KCND3 cause spinocerebellar ataxia type 22.
OBJECTIVE To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish American family was also mapped to this regio...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2012
ISSN: 0364-5134
DOI: 10.1002/ana.23701