Article
[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2006
Guo Ji-feng, Tang Bei-sha, Zhang Yu-hu, Liu Hong-jian, Yan Xin-xiang, Chen Tao, Shen Lu, Jiang Hong, Xia Kun, Cai Fang, Pan Qian
Abstract excerpt
OBJECTIVE: To investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP). METHODS: the polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis were applied to check parkin gene mutations of 15 index patients from 15 families with AR-JP. RESULTS: Three families were detected to have parkin mutations....
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