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 | 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 . |
4 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
5 | 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 . |
6 | 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 . |
7 | 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 . |