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Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNA(Ser(UCN)) 7511A>G mutation
Nuclear modifier genes have been proposed to modify the phenotypic expression of mitochondrial DNA mutations. Using a targeted exome-sequencing approach, here we found that the p.191Gly>Val mutation in mitochondrial tyrosyl-tRNA synthetase 2 (YARS2) interacts with the tRNA(Ser(UCN)) 7511A>G mu...
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| 出版年: | J Biol Chem |
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| 主要な著者: | , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Society for Biochemistry and Molecular Biology
2019
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6916496/ https://ncbi.nlm.nih.gov/pubmed/31685661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.010598 |
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