MITOMAP References for Mutation T-C at 14849

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Index PMID Date Reference
1 11891837 2002 Schuelke, M., Krude, H., Finckh, B., Mayatepek, E., Janssen, A., Schmelz, M., Trefz, F., Trijbels, F., Smeitink, J. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation Annals of Neurology . 51 (3): 388-392 .
2 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 .
3 20544923 2010 Massie, R., Wong, L. J., Milone, M. (2010) Exercise intolerance due to cytochrome b mutation Muscle and Nerve . 42 (1): 136-140 .