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A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy
We report a mutation in the anticodon of the tRNA(Arg) gene (m.10437 G>A), resulting in an anticodon swap from GCU to ACU, which is the anticodon of tRNA(Trp), in a boy with mitochondrial encephalomyopathy. Enzyme histochemical analysis of muscle tissue and biochemical analysis of isolated muscle...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Nature Publishing Group
2013
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3641373/ https://ncbi.nlm.nih.gov/pubmed/22781096 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.153 |
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