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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...
Gorde:
| Egile Nagusiak: | , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
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Nature Publishing Group
2009
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| Gaiak: | |
| Sarrera elektronikoa: | 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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