Article
[Personal genome analysis in amyotrophic lateral sclerosis].
Brain and nerve = Shinkei kenkyu no shinpo - 1 Mar 2013
Tanaka Fumiaki, Sone Jun, Atsuta Naoki, Nakamura Ryoichi, Doi Hiroshi, Koyano Shigeru, Sobue Gen
Abstract excerpt
In amyotrophic lateral sclerosis (ALS), 5% of cases are familial, and most of the remaining cases are sporadic. In familial ALS, many causative genes have been identified during the last 20 years of the golden age of genetics. In particular, the recent discovery of a hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9orf72) has had a large impact on ALS research, as this mutation is the most...
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