Article
Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.
Neurology - 25 Oct 2016
Liu Qing, Shu Shi, Wang Rong Rong, Liu Fang, Cui Bo, Guo Xia Nan, Lu Chao Xia, Li Xiao Guang, Liu Ming Sheng, Peng Bin, Cui Li-Ying, Zhang Xue
Abstract excerpt
OBJECTIVE: To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). METHODS: After causation of 24 known ALS genes was excluded by targeted next-generation sequencing, whole-exome sequencing was applied in the FAS family. Cellular localization of mutant hnRNPA1 was examined in transfected...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.