Article
[Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015
Zhang Ying, Lu Xingjiao, Cen Zhidong, Cao Jin, Ouyang Zhiyuan, Wang Bo, Luo Wei
Abstract excerpt
OBJECTIVE: To analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene. METHODS: The CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing. RESULTS: Molecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family...
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