MITOMAP References for Variant A>G at 5351

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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 12436196 2002 Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D., Marzuki, S. (2002) Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy Journal of Human Genetics . 47 (11): 594-604 .
3 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 .
4 17434142 2007 Tong, Y., Mao, Y., Zhou, X., Yang, L., Zhang, J., Cai, W., Zhao, F., Wang, X., Lu, F., Qu, J., Guan, M. X. (2007) The mitochondrial tRNA(Glu) A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese family with Leber's hereditary optic neuropathy Biochemical and Biophysical Research Communications . 357 (2): 524-530 .
5 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 .
6 18611982 2008 Yao, Y. G., Kong, Q. P., Salas, A., Bandelt, H. J. (2008) Pseudomitochondrial genome haunts disease studies Journal of Medical Genetics . 45 (12): 769-772 .
7 19022198 2008 Cai, W., Fu, Q., Zhou, X., Qu, J., Tong, Y., Guan, M. X. (2008) Mitochondrial variants may influence the phenotypic manifestation of Leber's hereditary optic neuropathy-associated ND4 G11778A mutation Journal of Genetics and Genomics . 35 (11): 649-655 .
8 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 .
9 19167085 2009 Qu, J., Zhou, X., Zhang, J., Zhao, F., Sun, Y. H., Tong, Y., Wei, Q. P., Cai, W., Yang, L., West, C. E., Guan, M. X. (2009) Extremely low penetrance of Leber's hereditary optic neuropathy in 8 Han Chinese families carrying the ND4 G11778A mutation Ophthalmology . 116 (3): 558-564 e3 .
10 19527690 2009 Zhang, A. M., Zou, Y., Guo, X., Jia, X., Zhang, Q., Yao, Y. G. (2009) Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese Biochemical and Biophysical Research Communications . 386 (2): 392-395 .
11 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 .
12 20454697 2010 Kumar, M., Tanwar, M., Saxena, R., Sharma, P., Dada, R. (2010) Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy Molecular Vision . 16 (-): 782-792 .
13 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 .
14 22110754 2011 Zhang, A. M., Jia, X., Bi, R., Salas, A., Li, S., Xiao, X., Wang, P., Guo, X., Kong, Q. P., Zhang, Q., Yao, Y. G. (2011) Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients PLoS One . 6 (11): e27750 .
15 23304069 2012 Bi, R., Zhang, A. M., Jia, X., Zhang, Q., Yao, Y. G. (2012) Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy Molecular Vision . 18 (): 3087-3094 .
16 NA 2014 van Oven, M., Kayser, M. (2014) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 16): 19 Feb .
17 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 .