MITOMAP References for RNA Mutation G12300A

Download PMID list

Index PMID Date Reference
1 9537417 1998 El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G., Dunbar, D., Holt, I.J., Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria Nature Genetics . 18 (4): 350-353 .
2 9817933 1998 El Meziane, A., Lehtinen, S.K., Holt, I.J., Jacobs, H.T. (1998) Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation Human Molecular Genetics . 7 (13): 2141-2147 .
3 10628996 2000 Lehtinen, S. K., Hance, N., El Meziane, A., Juhola, M. K., Juhola, K. M., Karhu, R., Spelbrink, J. N., Holt, I. J., Jacobs, H. T. (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA Genetics . 154 (1): 363-380 .
4 15328906 1999 Lehtinen, S. K., Spelbrink, J. N., Jacobs, H. T. (1999) Heteroplasmic segregation associated with trisomy-9 in cultured human cells Somatic Cell and Molecular Genetics . 25 (40669): 263-274 .
5 32970680 2020 Toncheva, D., Serbezov, D., Karachanak-Yankova, S., Nesheva, D. (2020) Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease PLoS One 15 (9): e0233666 .
6 22538251 2012 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .
7 16446307 2006 Kirino, Y., Yasukawa, T., Marjavaara, S. K., Jacobs, H. T., Holt, I. J., Watanabe, K., Suzuki, T. (2006) Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect Human Molecular Genetics . 15 (6): 897-904 .