MITOMAP References for Mutation T-C at 12338

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1 21131053 2011 Liu, X. L., Zhou, X., Zhou, J., Zhao, F., Zhang, J., Li, C., Ji, Y., Zhang, Y., Wei, Q. P., Sun, Y. H., Yang, L., Lin, B., Yuan, Y., Li, Y., Qu, J., Guan, M. X. (2011) Leber's hereditary optic neuropathy is associated with the T12338C mutation in mitochondrial ND5 gene in six Han Chinese families Ophthalmology . 118 (5): 978-985 .
2 29579248 2018 Zhang, J., Ji, Y., Lu, Y., Fu, R., Xu, M., Liu, X., Guan, M. X. (2018) Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy Human Molecular Genetics . 27 (11): 1999-2011 .
3 15278763 2004 Kong, Q. P., Yao, Y. G., Sun, C., Zhu, C. L., Zhong, L., Wang, C. Y., Cai, W. W., Xu, X. M., Xu, A. L., Zhang, Y. P. (2004) Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic Journal of Human Genetics . 49 (8): 414-423 .
4 18386806 2008 Chen, B., Sun, D., Yang, L., Zhang, C., Yang, A., Zhu, Y., Zhao, J., Chen, Y., Guan, M., Wang, X., Li, R., Tang, X., Wang, J., Tao, Z., Lu, J., Guan, M. X. (2008) Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees American Journal of Medical Genetics. Part A . 146A (10): 1248-1258 .
5 19818876 2010 Lu, J., Qian, Y., Li, Z., Yang, A., Zhu, Y., Li, R., Yang, L., Tang, X., Chen, B., Ding, Y., Li, Y., You, J., Zheng, J., Tao, Z., Zhao, F., Wang, J., Sun, D., Zhao, J., Meng, Y., Guan, M. X. (2010) Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation Mitochondrion . 10 (1): 69-81 .
6 21482521 2011 Ji, Y. C., Liu, X. L., Zhao, F. X., Zhang, J. J., Zhang, Y., Zhou, X. T., Qu, J., Guan, M. X. (2011) [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families] Yi Chuan . 33 (4): 322-328 .
7 21724059 2011 Bi, R., Zhang, A. M., Yao, Y. G. (2011) Leber's hereditary optic neuropathy Ophthalmology . 118 (7): 1489-1489 e1 .
8 21419139 2011 Bi, R., Li, W. L., Chen, M. Q., Zhu, Z., Yao, Y. G. (2011) Rapid identification of mtDNA somatic mutations in gastric cancer tissues based on the mtDNA phylogeny Mutation Research . 709-710 (): 15-20 .
9 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 .
10 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 .
11 NA 2014 van Oven, M., Kayser, M. (2014) . . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .