Index | PMID | Date | Reference |
---|---|---|---|
1 | 16364244 | 2006 | Zhou, X., Wei, Q., Yang, L., Tong, Y., Zhao, F., Lu, C., Qian, Y., Sun, Y., Lu, F., Qu, J., Guan, M. X. (2006) Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families Biochemical and Biophysical Research Communications . 340 (1): 69-75 . |
2 | 16955413 | 2006 | Young, W. Y., Zhao, L., Qian, Y., Li, R., Chen, J., Yuan, H., Dai, P., Zhai, S., Han, D., Guan, M. X. (2006) Variants in mitochondrial tRNAGlu, tRNAArg, and tRNAThr may influence the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese families with hearing loss American Journal of Medical Genetics. Part A . 140 (20): 2188-2197 . |
3 | 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 . |
4 | 22538251 | 2012 | Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 . |
5 | 23563965 | 2013 | Levin, L., Zhidkov, I., Gurman, Y., Hawlena, H., Mishmar, D. (2013) Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and disease Genome Biology and Evolution . 5 (5): 876-890 . |
6 | 31965079 | 2020 | Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 . |