Index | PMID | Date | Reference |
---|---|---|---|
1 | 10621222 | 2000 | Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C., Toyo-Oka, T. (2000) A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy American Journal of Human Genetics . 67 (6): 1617-1620 . |
2 | 12560876 | 2003 | Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I., Goto, Y. (2003) A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy Journal of Human Genetics . 48 (1): 47-50 . |
3 | 30854964 | 2019 | Ding, Y., Teng, Y. S., Zhuo, G. C., Xia, B. H., Leng, J. H. (2019) The mitochondrial tRNAHis G12192A mutation may modulate the clinical expression of deafness-associated tRNAThr G15927A mutation in a Chinese pedigree Current Molecular Medicine . 19 (2): 136-146 . |
4 | 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 . |
5 | 33552719 | 2021 | Ding, Y., Zhuo, G., Guo, Q., Li, M. (2021) Leber's hereditary optic neuropathy: the roles of mitochondrial transfer RNA variants PeerJ . 9 (): e10651 . |