MITOMAP References for Mutation C-T at 12848

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Index PMID Date Reference
1 16240359 2005 Mayorov, V., Biousse, V., Newman, N. J., Brown, M. D. (2005) The role of the ND5 gene in LHON: Characterization of a new, heteroplasmic LHON mutation Annals of Neurology . 58 (5): 807-811 .
2 19001017 2009 Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. (2009) Inherited mitochondrial optic neuropathies [Review] Journal of Medical Genetics . 46 (3): 145-158 .
3 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .