Article
Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort.
Neurology - 13 Oct 2009
Ticozzi N, Silani V, LeClerc A L, Keagle P, Gellera C, Ratti A, Taroni F, Kwiatkowski T J, McKenna-Yasek D M, Sapp P C, Brown R H, Landers J E
Abstract excerpt
OBJECTIVE: Mutations in the FUS gene on chromosome 16 have been recently discovered as a cause of familial amyotrophic lateral sclerosis (FALS). This study determined the frequency and identities of FUS gene mutations in a cohort of Italian patients with FALS. METHODS: We screened all 15 coding exons of FUS for mutations in 94 Italian patients with FALS. RESULTS: We identified 4 distinct missense mutations in 5...
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