Article
Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Feb 2016
Chen Yongping, Lin Ziqiang, Chen Xueping, Cao Bei, Wei Qianqian, Ou Ruwei, Zhao Bi, Song Wei, Wu Ying, Shang Hui-Fang
Abstract excerpt
An intronic GGGGCC hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9orf72) gene was considered as the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Caucasian populations. Using repeat-primed polymerase chain reaction analysis and Southern blotting methods, we assessed the frequency and size of hexanucleotide repeat expansion in a cohort of 918...
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