MITOMAP References for Mutation C-T at 5452

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1 15286228 2004 Uusimaa, J., Finnila, S., Remes, A. M., Rantala, H., Vainionpaa, L., Hassinen, I. E., Majamaa, K. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes Pediatrics . 114 (2): 443-450 .
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 .