Article
[Analysis of spinocerebellar ataxia type 31 related mutations among patients from mainland China].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018
Yang Ke, Zeng Sheng, Liu Zhen, Shi Shuying, Sun Weining, Yuan Yanchun, Weng Ling, Jiang Hong, Shen Lu, Tang Beisha, Wang Junling
Abstract excerpt
OBJECTIVE: To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China. METHODS: For a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with...
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