MITOMAP References for Variant T>C at 318

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Index PMID Date Reference
1 7717409 1995 Mountain, J.L., Hebert, J.M., Bhattacharyya, S., Underhill, P.A., Ottolenghi, C., Gadgil, M., Cavalli-Sforza, L.L. (1995) Demographic history of India and mtDNA-sequence diversity American Journal of Human Genetics . 56 (4): 979-992 .
2 10741483 2000 Dimo-Simonin, N., Grange, F., Taroni, F., Brandt-Casadevall, C., Mangin, P. (2000) Forensic evaluation of mtDNA in a population from south west Switzerland International Journal of Legal Medicine . 113 (2): 89-97 .
3 12893135 2003 Bini, C., Ceccardi, S., Luiselli, D., Ferri, G., Pelotti, S., Colalongo, C., Falconi, M., Pappalardo, G. (2003) Different informativeness of the three hypervariable mitochondrial DNA regions in the population of Bologna (Italy) Forensic Science International . 135 (1): 48-52 .
4 15126307 2004 Tan, D. J., Chang, J., Chen, W. L., Agress, L. J., Yeh, K. T., Wang, B., Wong, L. J. (2004) Somatic mitochondrial DNA mutations in oral cancer of betel quid chewers Annals of the New York Academy of Sciences . 1011 (-): 310-316 .
5 15248073 2004 Brandstatter, A., Peterson, C. T., Irwin, J. A., Mpoke, S., Koech, D. K., Parson, W., Parsons, T. J. (2004) Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database International Journal of Legal Medicine . 118 (5): 294-306 .
6 15637703 2005 Wang, Q., Li, R., Zhao, H., Peters, J. L., Liu, Q., Yang, L., Han, D., Greinwald, J. H., Jr., Young, W. Y., Guan, M. X. (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation American Journal of Medical Genetics . 133A (1): 27-30 .
7 16167362 2005 Brandstatter, A., Sanger, T., Lutz-Bonengel, S., Parson, W., Beraud-Colomb, E., Wen, B., Kong, Q. P., Bravi, C. M., Bandelt, H. J. (2005) Phantom mutation hotspots in human mitochondrial DNA Electrophoresis . 26 (18): 3414-3429 .
8 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 .
9 17341440 2007 Tang, X., Yang, L., Zhu, Y., Liao, Z., Wang, J., Qian, Y., Tao, Z., Hu, L., Wu, G., Lan, J., Wang, X., Ji, J., Wu, J., Ji, Y., Feng, J., Chen, J., Li, Z., Zhang, X., Lu, J., Guan, M. X. (2007) Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation Gene . 393 (40545): 11-19 .
10 17347766 2008 Bandelt, H. J., Parson, W. (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal International Journal of Legal Medicine . 122 (1): 11-21 .
11 18376149 2008 Pang, L. J., Shao, J. Y., Liang, X. M., Xia, Y. F., Zeng, Y. X. (2008) Mitochondrial DNA somatic mutations are frequent in nasopharyngeal carcinoma Cancer Biology and Therapy . 7 (2): 198-207 .
12 19026397 2008 Ji, Y., Zhang, A. M., Jia, X., Zhang, Y. P., Xiao, X., Li, S., Guo, X., Bandelt, H. J., Zhang, Q., Yao, Y. G. (2008) Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation American Journal of Human Genetics . 83 (6): 760-768 .
13 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 .
14 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
15 24467713 2014 Summerer, M., Horst, J., Erhart, G., Weissensteiner, H., Schonherr, S., Pacher, D., Forer, L., Horst, D., Manhart, A., Horst, B., Sanguansermsri, T., Kloss-Brandstatter, A. (2014) Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar BMC Evolutionary Biology . 14 (): 184-192 .
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 .