MITOMAP References for Variant C>T at 4850

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Index PMID Date Reference
1 7806218 1994 Tanaka, M., Ozawa, T. (1994) Strand asymmetry in human mitochondrial DNA mutations Genomics . 22 (2): 327-335 .
2 11553319 2001 Maca-Meyer, N., Gonzalez, A. M., Larruga, J. M., Flores, C., Cabrera, V. M. (2001) Major genomic mitochondrial lineages delineate early human expansions BMC Genetics . 2 (1): 13 .
3 11938495 2002 Herrnstadt, C., Elson, J. L., Fahy, E., Preston, G., Turnbull, D. M., Anderson, C., Ghosh, S. S., Olefsky, J. M., Beal, M. F., Davis, R. E., Howell, N. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups American Journal of Human Genetics . 70 (5): 1152-1171 .
4 12870132 2003 Kong, Q. P., Yao, Y. G., Sun, C., Bandelt, H. J., Zhu, C. L., Zhang, Y. P. (2003) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. [Erratum: Am. J. Hum. Genet., 75:157, 2004] American Journal of Human Genetics . 73 (3): 671-676 .
5 15466285 2004 Tanaka, M., Cabrera, V. M., Gonzalez, A. M., Larruga, J. M., Takeyasu, T., Fuku, N., Guo, L. J., Hirose, R., Fujita, Y., Kurata, M., Shinoda, K., Umetsu, K., Yamada, Y., Oshida, Y., Sato, Y., Hattori, N., Mizuno, Y., Arai, Y., Hirose, N., Ohta, S., Ogawa, O., Tanaka, Y., Kawamori, R., Shamoto-Nagai, M., Maruyama, W., Shimokata, H., Suzuki, R., Shimodaira, H. (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan Genome Research . 14 (10A): 1832-1850 .
6 16172508 2006 Kivisild, T., Shen, P., Wall, D. P., Do, B., Sung, R., Davis, K., Passarino, G., Underhill, P. A., Scharfe, C., Torroni, A., Scozzari, R., Modiano, D., Coppa, A., de Knijff, P., Feldman, M., Cavalli-Sforza, L. L., Oefner, P. J. (2006) The role of selection in the evolution of human mitochondrial genomes Genetics . 172 (1): 373-387 .
7 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 .
8 16855009 2006 Pierson, M. J., Martinez-Arias, R., Holland, B. R., Gemmell, N. J., Hurles, M. E., Penny, D. (2006) Deciphering past human population movements in Oceania: provably optimal trees of 127 mtDNA genomes Molecular Biology and Evolution . 23 (10): 1966-1975 .
9 17033820 2007 Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Yamaguchi, S., Nozawa, Y., Tanaka, M. (2007) Mitochondrial haplogroup N9b is protective against myocardial infarction in Japanese males Human Genetics . 120 (6): 827-836 .
10 17257906 2007 Nishigaki, Y., Yamada, Y., Fuku, N., Matsuo, H., Segawa, T., Watanabe, S., Kato, K., Yokoi, K., Yamaguchi, S., Nozawa, Y., Tanaka, M. (2007) Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females Mitochondrion . 7 (40545): 72-79 .
11 18587274 2008 Choi, B. O., Hwang, J. H., Kim, J., Cho, E. M., Cho, S. Y., Hwang, S. J., Lee, H. W., Kim, S. J., Chung, K. W. (2008) A MELAS syndrome family harboring two mutations in mitochondrial genome Experimental and Molecular Medicine . 40 (3): 354-360 .
12 19370763 2009 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
13 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 .
14 21281460 2011 Loo, J. H., Trejaut, J. A., Yen, J. C., Chen, Z. S., Lee, C. L., Lin, M. (2011) Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago BMC Genetics . 12 (Jan 31): 21 .
15 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
16 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 .