Article
C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Sept 2015
He Ji, Tang Lu, Benyamin Beben, Shah Sonia, Hemani Gib, Liu Rong, Ye Shan, Liu Xiaolu, Ma Yan, Zhang Huagang, Cremin Katie, Leo Paul, Wray Naomi R, Visscher Peter M, Xu Huji, Brown Matthew A, Bartlett Perry F, Mangelsdorf Marie, Fan Dongsheng
Abstract excerpt
A hexanucleotide repeat expansion (HRE) in the C9orf72 gene has been identified as the most common mutation in amyotrophic lateral sclerosis (ALS) among Caucasian populations. We sought to comprehensively evaluate genetic and epigenetic variants of C9orf72 and the contribution of the HRE in Chinese ALS cases. We performed fragment-length and repeat-primed polymerase chain reaction to determine GGGGCC copy number...
Topics
Join the communities discussing this publication.