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A novel acceptor stem variant in mitochondrial tRNA(Tyr) impairs mitochondrial translation and is associated with a severe phenotype
Genetic defects in mitochondrial DNA encoded tRNA genes impair mitochondrial translation with resultant defects in the mitochondrial respiratory chain and oxidative phosphorylation system. The phenotypic spectrum of disease seen in mitochondrial tRNA defects is variable and proving pathogenicity of...
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| Publié dans: | Mol Genet Metab |
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| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7749820/ https://ncbi.nlm.nih.gov/pubmed/33279411 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2020.11.006 |
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