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Article

High frequency of the <i>TARDBP</i> p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

18 Mar 2011

Abstract excerpt

Recently, rare mutations in the TARDBP gene have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS) patients. The purpose of this study was to characterize the genetic variability of the TARDBP gene in a cohort of Sardinian ALS patients. The coding region of the gene was analyzed in 97 unrelated patients previously tested negative for superoxide dismutase (SOD1) mutations. The...

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PMID: 21418058
DOI: 10.1111/j.1399-0004.2011.01668.x

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