Index | PMID | Date | Reference |
---|---|---|---|
1 | 7723627 | 1995 | Ikebe, S., Tanaka, M., Ozawa, T. (1995) Point mutations of mitochondrial genome in Parkinson's disease Molecular Brain Research . 28 (2): 281-295 . |
2 | 16714301 | 2006 | Kong, Q. P., Bandelt, H. J., Sun, C., Yao, Y. G., Salas, A., Achilli, A., Wang, C. Y., Zhong, L., Zhu, C. L., Wu, S. F., Torroni, A., Zhang, Y. P. (2006) Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations Human Molecular Genetics . 15 (13): 2076-2086 . |
3 | 16895436 | 2006 | Kazuno, A. A., Munakata, K., Nagai, T., Shimozono, S., Tanaka, M., Yoneda, M., Kato, N., Miyawaki, A., Kato, T. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics PLoS Genetics . 2 (8): e128 . |
4 | 22333566 | 2012 | Bodner, M., Perego, U. A., Huber, G., Fendt, L., Rock, A. W., Zimmermann, B., Olivieri, A., Gomez-Carballa, A., Lancioni, H., Angerhofer, N., Bobillo, M. C., Corach, D., Woodward, S. R., Salas, A., Achilli, A., Torroni, A., Bandelt, H. J., Parson, W. (2012) Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes Genome Research . 22 (5): 811-820 . |
5 | NA | 2016 | van Oven, M., Kayser, M. (2016) . http://www.phylotree.org . Variants appear in tree, sequence(s) available. Phylotree (Build 17): 18 Feb . |
6 | 29343773 | 2018 | Koh, H., Park, G. S., Shin, S. M., Park, C. E., Kim, S., Han, S. J., Pham, H. Q., Shin, J. H., Lee, D. W. (2018) Mitochondrial mutations in cholestatic liver disease with biliary atresia Scientific Reports . 8 (1): 905 . |
7 | NA | 2021 | Notation from curator. (2021) . This is an insertion in a polytract . Various modes of annotation exist (position reported inconsistently in the literature): insertions at 5' start of polytract are redirected to the position at 3'end . |
8 | 33504965 | 2021 | Park, J., Kang, E., Kang, S., Kim, D., Kim, D., Park, S. J., Jhang, W. K. (2021) Mitochondrial gene mutations in pediatric septic shock Pediatric Research . 90 (5): 1016-1022 . |