MITOMAP References for Mutation G-A at 14439

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1 25356405 2014 Uehara, N., Mori, M., Tokuzawa, Y., Mizuno, Y., Tamaru, S., Kohda, M., Moriyama, Y., Nakachi, Y., Matoba, N., Sakai, T., Yamazaki, T., Harashima, H., Murayama, K., Hattori, K., Hayashi, J., Yamagata, T., Fujita, Y., Ito, M., Tanaka, M., Nibu, K., Ohtake, A., Okazaki, Y. (2014) New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders Annals of Clinical Translational Neurology . 1 (5): 361-369 .
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 .
3 28429146 2017 Ogawa, E., Shimura, M., Fushimi, T., Tajika, M., Ichimoto, K., Matsunaga, A., Tsuruoka, T., Ishige, M., Fuchigami, T., Yamazaki, T., Mori, M., Kohda, M., Kishita, Y., Okazaki, Y., Takahashi, S., Ohtake, A., Murayama, K. (2017) Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients Journal of Inherited Metabolic Disease . 40 (5): 685-693 .