MITOMAP References for Mutation G-A at 12622

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Index PMID Date Reference
1 17400793 2007 Blok, M. J., Spruijt, L., de Coo, I. F., Schoonderwoerd, K., Hendrickx, A., Smeets, H. J. (2007) Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease Journal of Medical Genetics . 44 (4): e74 .
2 29987491 2018 O'Keefe, H., Queen, R. A., Meldau, S., Lord, P., Elson, J. L. (2018) Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations Journal of Molecular Evolution . 86 (6): 395-403 .