Article
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society - 30 Oct 2008
Guo Ji-Feng, Xiao Bin, Liao Bing, Zhang Xue-Wei, Nie Li-Luo, Zhang Yu-Hu, Shen Lu, Jiang Hong, Xia Kun, Pan Qian, Yan Xin-Xiang, Tang Bei-Sha
Abstract excerpt
Autosomal recessive early-onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ-1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1...
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