Article
Identification of FUS p.R377W in essential tremor.
European journal of neurology - 1 Feb 2014
Rajput A, Rajput A H, Rajput M L, Encarnacion M, Bernales C Q, Ross J P, Farrer M J, Vilariño-Güell C
Abstract excerpt
BACKGROUND AND PURPOSE: Exome sequencing analysis has recently identified a nonsense mutation in fused in sarcoma (FUS) segregating with essential tremor (ET) within a large French-Canadian family. Further characterization of FUS resulted in the identification of additional mutations in ET patients; however, their pathogenicity still remains to be confirmed. The role of FUS in an independent cohort of ET patients...
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