MITOMAP References for Variant G>A at 9548

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1 1757091 1991 Marzuki, S., Noer, A. S., Letrit, P., Thyagarajan, D., Kapsa, R., Utthanaphol, P., Byrne, E. (1991) Normal variants of human mitochondrial DNA and translation products: the building of a reference data base Human Genetics . 88 (2): 139-145 .
2 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 .
3 14760490 2004 Coble, M. D., Just, R. S., O'Callaghan, J. E., Letmanyi, I. H., Peterson, C. T., Irwin, J. A., Parsons, T. J. (2004) Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians International Journal of Legal Medicine . 118 (3): 137-146 .
4 16404693 2006 Behar, D. M., Metspalu, E., Kivisild, T., Achilli, A., Hadid, Y., Tzur, S., Pereira, L., Amorim, A., Quintana-Murci, L., Majamaa, K., Herrnstadt, C., Howell, N., Balanovsky, O., Kutuev, I., Pshenichnov, A., Gurwitz, D., Bonne-Tamir, B., Torroni, A., Villems, R., Skorecki, K. (2006) The matrilineal ancestry of Ashkenazi jewry: portrait of a recent founder event American Journal of Human Genetics . 78 (3): 487-497 .
5 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 .
6 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 .
7 17698299 2007 Chen, J., Yang, L., Yang, A., Zhu, Y., Zhao, J., Sun, D., Tao, Z., Tang, X., Wang, J., Wang, X., Tsushima, A., Lan, J., Li, W., Wu, F., Yuan, Q., Ji, J., Feng, J., Wu, C., Liao, Z., Li, Z., Greinwald, J. H., Lu, J., Guan, M. X. (2007) Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees Gene . 401 (40545): 4-11 .
8 18477584 2008 Malyarchuk, B., Grzybowski, T., Derenko, M., Perkova, M., Vanecek, T., Lazur, J., Gomolcak, P., Tsybovsky, I. (2008) Mitochondrial DNA phylogeny in Eastern and Western Slavs Molecular Biology and Evolution . 25 (8): 1651-1658 .
9 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 .
10 18590963 2008 Horvath, R., Reilmann, R., Holinski-Feder, E., Ringelstein, E. B., Klopstock, T. (2008) The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA Neuromuscular Disorders . 18 (7): 553-556 .
11 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 .
12 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 .
13 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 .
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 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 .