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Pathogenic mechanism of a human mitochondrial tRNA(Phe) mutation associated with myoclonic epilepsy with ragged red fibers syndrome

Human mitochondrial tRNA (hmt-tRNA) mutations are associated with a variety of diseases including mitochondrial myopathies, diabetes, encephalopathies, and deafness. Because the current understanding of the precise molecular mechanisms of these mutations is limited, there is no efficient method to t...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Ling, Jiqiang, Roy, Hervé, Qin, Daoming, Rubio, Mary Anne T., Alfonzo, Juan D., Fredrick, Kurt, Ibba, Michael
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2007
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2000536/
https://ncbi.nlm.nih.gov/pubmed/17878308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0704441104
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