MITOMAP References for Mutation T-C at 3472

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1 24800637 2014 Martinez-Romero, I., Herrero-Martin, M. D., Llobet, L., Emperador, S., Martin-Navarro, A., Narberhaus, B., Ascaso, F. J., Lopez-Gallardo, E., Montoya, J., Ruiz-Pesini, E. (2014) New MT-ND1 pathologic mutation for Leber hereditary optic neuropathy Clinical and Experimental Ophthalmology . 42 (9): 856-864 .
2 27177320 2016 Ji, Y., Liang, M., Zhang, J., Zhu, L., Zhang, Z., Fu, R., Liu, X., Zhang, M., Fu, Q., Zhao, F., Tong, Y., Sun, Y., Jiang, P., Guan, M. X. (2016) Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's hereditary optic neuropathy Investigative Ophthalmology and Visual Science . 57 (6): 2377-2789 .
3 27449621 2016 Sheremet, N. L., Nevinitsyna, T. A., Zhorzholadze, N. V., Ronzina, I. A., Itkis, Y. S., Krylova, T. D., Tsygankova, P. G., Malakhova, V. A., Zakharova, E. Y., Tokarchuk, A. V., Panteleeva, A. A., Karger, E. M., Lyamzaev, K. G., Avetisov, S. E. (2016) Previously unclassified mutation of mtDNA m.3472T>C: evidence of pathogenicity in Leber's hereditary optic neuropathy Biochemistry (Moscow) . 81 (7): 748-754 .
4 28862604 2017 Krylova, T. D., Tsygankova, P. G., Itkis, Y. S., Sheremet, N. L., Nevinitsyna, T. A., Mikhaylova, S. V., Zakharova, E. Y. (2017) [High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency] Biomeditsinskaia Khimiia . 63 (4): 327-333 .
5 28870561 2017 Seong, M. W., Choi, J., Park, S. S., Kim, J. Y., Hwang, J. M. (2017) MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy Journal of the Neurological Sciences . 380 (): 174-176 .
6 28992945 2017 Finsterer, J., Zarrouk-Mahjoub, S. (2017) Pathogenicity of the LHON variant m.3472T>C is uncertain Journal of the Neurological Sciences . 382 (): 164-165 .
7 28992946 2017 Seong, M. W., Choi, J., Park, S. S., Kim, J. Y., Hwang, J. M. (2017) Author reply: "MtDNA m.3472T>C could be classified as a primary mutation of Leber's hereditary optic neuropathy" Journal of the Neurological Sciences . 382 (): 166-167 .