MITOMAP References for Mutation G-A at 10680

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1 29444077 2018 Caporali, L., Iommarini, L., La Morgia, C., Olivieri, A., Achilli, A., Maresca, A., Valentino, M. L., Capristo, M., Tagliavini, F., Del Dotto, V., Zanna, C., Liguori, R., Barboni, P., Carbonelli, M., Cocetta, V., Montopoli, M., Martinuzzi, A., Cenacchi, G., De Michele, G., Testa, F., Nesti, A., Simonelli, F., Porcelli, A. M., Torroni, A., Carelli, V. (2018) Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy PLoS Genetics . 14 (2): e1007210 .
2 19394449 2009 Yang, J., Zhu, Y., Tong, Y., Zhang, Z., Chen, L., Chen, S., Cao, Z., Liu, C., Xu, J., Ma, X. (2009) The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family Mitochondrion . 9 (4): 273-278 .
3 20643099 2010 Zou, Y., Jia, X., Zhang, A. M., Wang, W. Z., Li, S., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2010) The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations Biochemical and Biophysical Research Communications . 399 (2): 179-185 .
4 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 .