Article
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
American journal of medical genetics. Part A - 1 Jan 2017
Nowaczyk Małgorzata J M, Huang Lijia, Tarnopolsky Mark, Schwartzentruber Jeremy, Majewski Jacek, Bulman Dennis E, Hartley Taila, Boycott Kym M
Abstract excerpt
Aminoacyl-tRNA synthetases (ARSs) are a group of ubiquitously expressed enzymes that are best known for their function in the first step of protein translation but have been increasingly associated with secondary functions including transcription and translation control and extracellular signaling. Mutations in numerous ARSs have been linked to a growing number of both autosomal dominant and autosomal recessive...
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