Index | PMID | Date | Reference |
---|---|---|---|
1 | 9636664 | 1998 | Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krahenbuhl, S., Liechti-Gallati, S. (1998) A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease Biochemical and Biophysical Research Communications . 247 (1): 112-115 . |
2 | 17878308 | 2007 | Ling, J., Roy, H., Qin, D., Rubio, M. A., Alfonzo, J. D., Fredrick, K., Ibba, M. (2007) Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome Proceedings of the National Academy of Sciences . 104 (39): 15299-15304 . |
3 | 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 . |