Article
Mutation analysis of LRRK2, SCNA, UCHL1, HtrA2 and GIGYF2 genes in Chinese patients with autosomal dorminant Parkinson's disease.
Neuroscience letters - 16 May 2012
Tian Jin-yong, Guo Ji-feng, Wang Lei, Sun Qi-ying, Yao Ling-yan, Luo Lin-zi, Shi Chang-he, Hu Ya-cen, Yan Xin-xiang, Tang Bei-sha
Abstract excerpt
Autosomal dorminant Parkinson's disease (ADPD) has been associated with mutations in the SCNA, LRRK2, UCHL1, HtrA2 and GIGYF2 genes. We studied the prevalence of variants in all five genes in 12 Chinese unrelated families with ADPD and 4 families with both essential tremor (ET) and Parkinson's disease (PD) phenotypes using direct sequencing analysis. We found 27 variants in the LRRK2 gene, eight in GIGYF2 gene,...
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