Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

NADH:ubiquinone oxidoreductase (complex I; EC 1.6.5.3), the largest respiratory chain complex is composed of 45 proteins and is located at the mitochondrial inner membrane. Defects in complex I are associated with energy generation disorders, of which the most severe is congenital lactic acidosis. W...

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Bibliographische Detailangaben
Hauptverfasser: Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
Schlagworte:
Short Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986593/
https://ncbi.nlm.nih.gov/pubmed/19259137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.24
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