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Identification of FUS p.R377W in essential tremor

BACKGROUND: 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 the...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur J Neurol
Prif Awduron: Rajput, Alex, Rajput, Ali H, Rajput, Michele L, Encarnacion, Mary, Bernales, Cecily Q, Ross, Jay P, Farrer, Matthew J, Vilariño-Güell, Carles
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5092174/
https://ncbi.nlm.nih.gov/pubmed/23834483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ene.12231
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