MITOMAP References for Variant A>G at 1041

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1 1442494 1992 Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 .
2 16714301 2006 Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 .
3 18545700 2008 Bilal, E., Rabadan, R., Alexe, G., Fuku, N., Ueno, H., Nishigaki, Y., Fujita, Y., Ito, M., Arai, Y., Hirose, N., Ruckenstein, A., Bhanot, G., Tanaka, M. (2008) Mitochondrial DNA haplogroup D4a is a marker for extreme longevity in Japan PLoS One . 3 (6): e2421 .
4 18790089 2008 Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H., Van Laer, L. (2008) Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients Mitochondrion . 8 (40669): 377-382 .
5 19324017 2009 Liang, M., Guan, M., Zhao, F., Zhou, X., Yuan, M., Tong, Y., Yang, L., Wei, Q. P., Sun, Y. H., Lu, F., Qu, J., Guan, M. X. (2009) Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation Biochemical and Biophysical Research Communications . 383 (3): 286-292 .
6 19705751 2009 Dzhemileva, L. U., Posukh, O. L., Tazetdinov, A. M., Barashkov, N. A., Zhuravskii, S. G., Ponidelko, S. N., Markova, T. G., Tadinova, V. N., Fedorova, S. A., Maksimova, N. R., Khusnutdinova, E. K. (2009) [Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia] Genetika . 45 (7): 982-991 .
7 20100600 2010 Lu, J., Li, Z., Zhu, Y., Yang, A., Li, R., Zheng, J., Cai, Q., Peng, G., Zheng, W., Tang, X., Chen, B., Chen, J., Liao, Z., Yang, L., Li, Y., You, J., Ding, Y., Yu, H., Wang, J., Sun, D., Zhao, J., Xue, L., Wang, J., Guan, M. X. (2010) Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing loss Mitochondrion . 10 (4): 380-390 .
8 20304802 2010 van Oven, M. (2010) Revision of the mtDNA tree and corresponding haplogroup nomenclature Proceedings of the National Academy of Sciences of the United States of America . 107 (11): E38-E39; author reply E40-E41 .
9 20728388 2010 Zhang, M., Zhou, X., Li, C., Zhao, F., Zhang, J., Yuan, M., Sun, Y. H., Wang, J., Tong, Y., Liang, M., Yang, L., Cai, W., Wang, L., Qu, J., Guan, M. X. (2010) Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation Molecular Genetics and Metabolism . 101 (40577): 192-199 .
10 24002810 2013 Kang, L., Zheng, H. X., Chen, F., Yan, S., Liu, K., Qin, Z., Liu, L., Zhao, Z., Li, L., Wang, X., He, Y., Jin, L. (2013) mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. [Supplementary Materials online.] Molecular Biology and Evolution . 30 (12): 2579-2587 .
11 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
12 24667788 2015 Zhang, J., Zhang, Z. X., Du, P. C., Zhou, W., Wu, S. D., Wang, Q. L., Chen, C., Shi, Q., Chen, C., Gao, C., Tian, C., Dong, X. P. (2015) Analyses of the mitochondrial mutations in the Chinese patients with sporadic Creutzfeldt-Jakob disease European Journal of Human Genetics . 23 (1): 86-91 .
13 33420243 2021 Verma, R. K., Kalyakulina, A., Giuliani, C., Shinde, P., Kachhvah, A. D., Ivanchenko, M., Jalan, S. (2021) Analysis of human mitochondrial genome co-occurrence networks of Asian population at varying altitudes Scientific Reports . 11 (1): 133 .