Index | PMID | Date | Reference |
---|---|---|---|
1 | 14659412 | 2004 | Moslemi, A. R., Lindberg, C., Toft, J., Holme, E., Kollberg, G., Oldfors, A. (2004) A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy Neuromuscular Disorders . 14 (1): 46-50 . |
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 | 19718780 | 2009 | Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 . |