MITOMAP References for Variant A-G at 15579

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Index PMID Date Reference
1 11601507 2001 Wibrand, F., Ravn, K., Schwartz, M., Rosenberg, T., Horn, N., Vissing, J. (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene Annals of Neurology . 50 (4): 540-543 .
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 23376095 2013 Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 .
4 23418307 2013 Ghelli, A., Tropeano, C. V., Calvaruso, M. A., Marchesini, A., Iommarini, L., Porcelli, A. M., Zanna, C., De Nardo, V., Martinuzzi, A., Wibrand, F., Vissing, J., Kurelac, I., Gasparre, G., Selamoglu, N., Daldal, F., Rugolo, M. (2013) The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes Human Molecular Genetics . 22 (11): 2141-2151 .
5 32652755 2020 Wong, L. C., Chen, T., Schmitt, E. S., Wang, J., Tang, S., Landsverk, M., Li, F., Zhang, S., Wang, Y., Zhang, V. W., Craigen, W. J. (2020) Clinical and laboratory interpretation of mitochondrial mRNA variants Human Mutatation . 41 (10): .