Article
[The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree].
Zhonghua yi xue za zhi - 7 Jul 2015
Huang Yue, Xia Mingrong, Ren Xiuhua, He Shuang, Zhang Jiewen
Abstract excerpt
OBJECTIVE: To investigate the clinical manifestations and gene mutations on a large spinocerebellar ataxia 3 pedigree, in order to explore the molecular genetical characteristics in this pedigree. METHODS: Blood samples from 9 patients and 27 healthy family members in the Department of Neurology of Henan Provincial People's Hospital were collected. The CAG trinucleotide repeats in SCA3 gene in each sample were...
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