Article
Mutational analysis of familial and sporadic amyotrophic lateral sclerosis with OPTN mutations in Japanese population.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Oct 2012
Naruse Hiroya, Takahashi Yuji, Kihira Tameko, Yoshida Sohei, Kokubo Yasumasa, Kuzuhara Shigeki, Ishiura Hiroyuki, Amagasa Masaharu, Murayama Shigeo, Tsuji Shoji, Goto Jun
Abstract excerpt
Our objective was to elucidate the genetic epidemiology of familial amyotrophic lateral sclerosis (FALS) and sporadic ALS (SALS) with OPTN mutations in the Japanese population. Mutational analysis of OPTN was conducted in 18 FALS pedigrees in whom mutations in other causative genes have been excluded and in 218 SALS patients by direct nucleotide sequence analysis. Novel non-synonymous variants identified in ALS...
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