Article
ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Jun 2014
Ma Yan, Tang Lu, Chen Lu, Zhang Bin, Deng Pan, Wang Jingran, Yang Yi, Liu Rong, Yang Yan, Ye Shan, Liu Xiaolu, Zhang Huagang, Fan Dongsheng
Abstract excerpt
It was reported that the intron 6, + 1 del G (GT>TT) mutation of the ARHGEF28 gene generates a shortened protein that might be related to amyotrophic lateral sclerosis (ALS). We sequenced this mutation in 25 familial ALS (FALS), 357 sporadic ALS (SALS) patients, and 442 healthy control subjects....
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