Article
[Analysis of SMPD1 gene mutations in Chinese patients with Parkinson's disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018
Song Na, Wang Wei, Chen Chao, Niu Jianyi, Guojin Yuxuan, Guo Cunju, Han Fabin
Abstract excerpt
OBJECTIVE: To explore the role of sphingomyedlin phosphodiesterase 1 (SMPD1) gene mutations in the pathogenesis of Parkinson's disease (PD). METHODS: For 110 Chinese patients with PD, all exons of the SMPD1 gene were sequenced, and the results were compared with reference sequence from GenBank to identify possible mutations. RESULTS: A novel heterozygous mutation Ex2:c.677C>A/p.P226Q (likely pathogenic) was...
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