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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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Pubblicato in:Hum Mol Genet
Autori principali: Meyer-Schuman, Rebecca, Antonellis, Anthony
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online: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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