MITOMAP References for Mutation T-C at 14502

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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 18440284 2008 Zhang, S., Wang, L., Hao, Y., Wang, P., Hao, P., Yin, K., Wang, Q. K., Liu, M. (2008) T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family Mitochondrion . 8 (3): 205-210 .
3 20691156 2010 Zhang, J., Zhou, X., Zhou, J., Li, C., Zhao, F., Wang, Y., Meng, Y., Wang, J., Yuan, M., Cai, W., Tong, Y., Sun, Y. H., Yang, L., Qu, J., Guan, M. X. (2010) Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families Biochemical and Biophysical Research Communications . 399 (4): 647-653 .
4 19732751 2009 Zhao, F., Guan, M., Zhou, X., Yuan, M., Liang, M., Liu, Q., Liu, Y., Zhang, Y., Yang, L., Tong, Y., Wei, Q. P., Sun, Y. H., Qu, J., Guan, M. X. (2009) Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation Biochemical and Biophysical Research Communications . 389 (3): 466-472 .
5 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 .
6 27427386 2016 Jiang, P., Liang, M., Zhang, C., Zhao, X., He, Q., Cui, L., Liu, X., Sun, Y. H., Fu, Q., Ji, Y., Bai, Y., Huang, T., Guan, M. X. (2016) Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation Human Molecular Genetics . 25 (16): 3613-3625 .
7 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 .
8 32045392 2020 Cui, S., Yang, L., Jiang, H., Peng, J., Shang, J., Wang, J., Zhang, X. (2020) Clinical features of Chinese sporadic Leber hereditary optic neuropathy caused by rare primary mtDNA mutations Journal of Neuro-Ophthalmology . 40 (1): 30-36 .
9 33858285 2021 Vandeputte, J., Van Heetvelde, M., Van Cauwenbergh, C., Seneca, S., De Baere, E., Leroy, B. P., De Zaeytijd, J. (2021) Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene Ophthalmic Genetics . April 16 (): 1-6 .