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Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Aminoacyl-tRNA synthetases (ARSs) are responsible for charging amino acids to cognate tRNA molecules, which is the essential first step of protein translation. Interestingly, mutations in genes encoding ARS enzymes have been implicated in a broad spectrum of human inherited diseases. Bi-allelic muta...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Meyer-Schuman, Rebecca, Antonellis, Anthony
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886470/
https://ncbi.nlm.nih.gov/pubmed/28633377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx231
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