La maladie de Parkinson au Canada (serveur d'exploration)

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Genetic analysis of the FUS/TLS gene in essential tremor

Identifieur interne : 000F98 ( Main/Exploration ); précédent : 000F97; suivant : 000F99

Genetic analysis of the FUS/TLS gene in essential tremor

Auteurs : N. Parmalee [États-Unis] ; K. Mirzozoda [États-Unis] ; S. Kisselev [États-Unis] ; N. Merner [Canada] ; P. Dion [Canada] ; G. Rouleau [Canada] ; L. Clark [États-Unis] ; E. D. Louis [États-Unis]

Source :

RBID : ISTEX:24EE8E97906247CEFBCB1B2D56E3C0363692411B

Abstract

Although essential tremor (ET) has a genetic basis, specific genes have not been identified. Recently, in a large ET family (FET1) from Quebec, a non‐sense mutation (p.Q290X) in the amyotrophic lateral sclerosis (ALS) gene fused in sarcoma/translated in liposarcoma (FUS/TLS) was identified by exome sequencing. No confirmatory studies have been published.

Url:
DOI: 10.1111/ene.12023


Affiliations:


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