NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I–deficient patients. We investig...

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Hlavní autoři: Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2004
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC516258/
https://ncbi.nlm.nih.gov/pubmed/15372108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200420683
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