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[Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Zhang Xin, Hao Ying, Gu Wei-hong, Chen Yuan-yuan, Zhang Jin, Wang Guo-xiang, Wang Kang, Jin Miao, Duan Xiao-hui

Abstract excerpt

OBJECTIVE: To investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds. METHODS: Fragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases. RESULTS: Expanded CAG repeats of...

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PMID: 23450475
DOI: 10.3760/cma.j.issn.1003-9406.2013.01.008

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