Index | PMID | Date | Reference |
---|---|---|---|
1 | 15833431 | 2005 | Pulkes, T., Liolitsa, D., Eunson, L. H., Rose, M., Nelson, I. P., Rahman, S., Poulton, J., Marchington, D. R., Landon, D. N., Debono, A. G., Morgan-Hughes, J. A., Hanna, M. G. (2005) New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation Neuromuscular Disorders . 15 (5): 364-371 . |
2 | 16368237 | 2006 | Cardaioli, E., Da Pozzo, P., Cerase, A., Sicurelli, F., Malandrini, A., De Stefano, N., Stromillo, M. L., Battisti, C., Dotti, M. T., Federico, A. (2006) Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene Neuromuscular Disorders . 16 (1): 26-31 . |
3 | 18398437 | 2008 | Swalwell, H., Blakely, E. L., Sutton, R., Tonska, K., Elstner, M., He, L., Taivassalo, T., Burns, D. K., Turnbull, D. M., Haller, R. G., Davidson, M. M., Taylor, R. W. (2008) A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? European Journal of Human Genetics . 16 (10): 1265-1274 . |
4 | 32169613 | 2020 | Zheng, J., Bai, X., Xiao, Y., Ji, Y., Meng, F., Aishanjiang, M., Gao, Y., Wang, H., Fu, Y., Guan, M. X. (2020) Mitochondrial tRNA mutations in 887 Chinese subjects with hearing loss Mitochondrion . 52 (): 163-172 . |