Article
Genetic analysis of Parkin in early onset Parkinson's disease (PD): Novel intron 9 g > a single nucleotide polymorphism and risk of Taiwanese PD.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Jan 2010
Wu Yih-Ru, Wu Chun-Hsien, Chao Chih-Ying, Kuan Chun-Chieh, Zhang Wan-Ling, Wang Cheng-Kuang, Chang Chun-Yuh, Chang Yi-Chun, Lee-Chen Guey-Jen, Chen Chung-Mei
Abstract excerpt
Early onset Parkinson's disease (PD) has been associated with mutations in Parkin. We screened Parkin mutations in a cohort of Taiwanese early onset PD using direct cDNA sequencing. Two deletions (Ex2-3del and Ex5del), one point mutation (R334C), one 86-bp IVS9 insertion (c.1084intron(+)), and two polymorphisms (S167N and V380L) were identified. The mutations identified are heterozygous and none of the mutation...
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