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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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| 出版年: | Hum Mol Genet |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2017
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| 主題: | |
| オンライン･アクセス: | 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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