Article
Genetic variants in the RAB7L1 and SLC41A1 genes of the PARK16 locus in Chinese Parkinson's disease patients.
The International journal of neuroscience - 1 Nov 2011
Yan Yaping, Tian Jun, Mo Xiaoyun, Zhao Guohua, Yin Xinzhen, Pu Jiali, Zhang Baorong
Abstract excerpt
We performed direct DNA sequencing of the RAB7L1 and SLC41A1 genes within the PARK16 locus in 205 Chinese Parkinson's disease (PD) patients. Three novel heterozygous variants were identified in SLC41A1: c.436A > G (causing p.Lys146Glu), c.1440A > G (causing p.Pro480Pro), and c.552 + 50G > A. These three variants were not present in any of the 210 genetically unrelated healthy controls of the same ethnic origin....
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