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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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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Meyer-Schuman, Rebecca, Antonellis, Anthony
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2017
Teme:
Online pristup: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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