MITOMAP References for Mutation T-C at 3866

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Index PMID Date Reference
1 15896721 2005 Qian, Y., Zhou, X., Hu, Y., Tong, Y., Li, R., Lu, F., Yang, H., Mo, J. Q., Qu, J., Guan, M. X. (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 332 (2): 614-621 .
2 20176558 2010 Liu, Y., Zhuang, S. L., Tong, Y., Qu, J., Zhou, X. T., Zhao, F. X., Zhang, J. J., Zhang, Y. M., Zhang, Y., Guan, M. X. (2010) [Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation] Yi Chuan . 32 (2): 141-147 .
3 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 .
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 .
5 29387390 2018 Dai, Y., Wang, C., Nie, Z., Han, J., Chen, T., Zhao, X., Ai, C., Ji, Y., Gao, T., Jiang, P. (2018) Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel Biomedical Reports . 8 (1): 51-58 .
6 20197120 2010 Hinttala, R., Kervinen, M., Uusimaa, J., Maliniemi, P., Finnila, S., Rantala, H., Remes, A. M., Hassinen, I. E., Majamaa, K. (2010) Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli Mitochondrion . 10 (4): 358-361 .
7 32723871 2020 Ji, Y., Zhang, J., Lu, Y., Yi, Q., Chen, M., Xie, S., Mao, X., Xiao, Y., Meng, F., Zhang, M., Yang, R., Guan, M. X. (2020) Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy The Journal of Biological Chemistry . 295 (38): 13224-13238 .
8 NA 2016 van Oven, M., Kayser, M. (2016) . . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb .