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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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| Vydáno v: | Hum Mol Genet |
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| Hlavní autoři: | , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2017
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| Témata: | |
| On-line přístup: | 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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