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Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNA(Val) carrying the pathogenic C25U mutation
Phenotypic diversity associated with pathogenic mutations of the human mitochondrial genome (mtDNA) has often been explained by unequal segregation of the mutated and wild-type genomes (heteroplasmy). However, this simple hypothesis cannot explain the tissue specificity of disorders caused by homopl...
Autores principales: | , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396425/ https://www.ncbi.nlm.nih.gov/pubmed/18400783 http://dx.doi.org/10.1093/nar/gkn147 |