Article
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.
Journal of medical genetics - 1 Feb 2009
Daoud H, Valdmanis P N, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau G A
Abstract excerpt
AIMS AND BACKGROUND: Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic lateral sclerosis (ALS). We screened the TARDBP gene in 285 French sporadic ALS patients to assess the frequency of TARDBP mutations in ALS. RESULTS: Six individuals had potentially deleterious mutations of which three were novel including...
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