| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 12406974 | 2002 | Wong, L. J., Liang, M. H., Kwon, H., Park, J., Bai, R. K., Tan, D. J. (2002) Comprehensive scanning of the entire mitochondrial genome for mutations Clinical Chemistry . 48 (11): 1901-1912 . |
| 2 | 16950817 | 2006 | Wong, L. J., Yim, D., Bai, R. K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L., Kerr, D. S. (2006) A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency Journal of Medical Genetics . 43 (9): e46 . |
| 3 | 27450679 | 2017 | Sallevelt, S. C., de Die-Smulders, C. E., Hendrickx, A. T., Hellebrekers, D. M., de Coo, I. F., Alston, C. L., Knowles, C., Taylor, R. W., McFarland, R., Smeets, H. J. (2017) De novo mtDNA point mutations are common and have a low recurrence risk Journal of Medical Genetics . 54 (2): 73-83 . |
| 4 | 36967720 | 2023 | Suzuki-Ajihara, S., Saito-Tsuruoka, M., Harashima, H., Arai, K., Koide, H., Yatsuka, Y., Imai-Okazaki, A., Okazaki, Y., Murayama, K., Numakura, C., Akioka, Y., Ohtake, A. (2023) Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family Molecular Genetics and Metabolism Reports . 35 (): 100966 . |