Article
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases - 1 Feb 2012
Brown Jeffrey A, Min Jionghong, Staropoli John F, Collin Elisa, Bi Stephen, Feng Xin, Barone Rosemary, Cao Yi, O'Malley Lei, Xin Winnie, Mullen Thomas E, Sims Katherine B
Abstract excerpt
SOD1, ANG, TARDBP and FUS mutations have been associated with amyotrophic lateral sclerosis (ALS). Our goal was to extend molecular genetic analysis to newly identified ALS genetic loci and to determine the frequency of mutations, distribution of disease genes, and variant spectrum of these genes in a large United States ALS-phenotype cohort. We screened 1220 probands with an ALS phenotype, referred originally...
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