Ontology highlight
ABSTRACT:
SUBMITTER: Shi CH
PROVIDER: S-EPMC5430725 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Shi Chang-He CH Li Fang F Shi Meng-Meng MM Yang Zhi-Hua ZH Mao Cheng-Yuan CY Zhang Shu-Yu SY Wang Hui H Cheng Yuan Y Yang Jing J Wu Jun J Xu Yu-Ming YM
Scientific reports 20170426 1
TMEM230 mutations have been recently reported to cause autosomal dominant Parkinson's disease (PD). However, there are limited studies from different ethnic populations to support the role of TMEM230 in sporadic PD. In this study, we performed a comprehensive TMEM230 mutation screening in 550 sporadic PD patients and 560 controls to elaborate the genetic contribution of TMEM230 to sporadic PD. Overall, we did not find any pathogenic mutations in the coding sequence, while we identified four vari ...[more]