A functionally dominant mitochondrial DNA mutation

Mutations in mitochondrial DNA (mtDNA) tRNA genes can be considered functionally recessive because they result in a clinical or biochemical phenotype only when the percentage of mutant molecules exceeds a critical threshold value, in the range of 70–90%. We report a novel mtDNA mutation that contrad...

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Hlavní autoři: Sacconi, Sabrina, Salviati, Leonardo, Nishigaki, Yutaka, Walker, Winsome F., Hernandez-Rosa, Evelyn, Trevisson, Eva, Delplace, Severine, Desnuelle, Claude, Shanske, Sara, Hirano, Michio, Schon, Eric A., Bonilla, Eduardo, De Vivo, Darryl C., DiMauro, Salvatore, Davidson, Mercy M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2008
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2900892/
https://ncbi.nlm.nih.gov/pubmed/18337306
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn073
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