MITOMAP References for Somatic Polymorphism T-A at 408

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1 NA 2001 Del Bo, R., Sciacco, M., Crimi, M., Napoli, L., Bresolin, N., Scarlato, G., Comi, G. P. (2001) Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a single-fiber study Mitochondrion . 1 (Suppl 1): S44 .
2 11274426 2001 Wang, Y., Michikawa, Y., Mallidis, C., Bai, Y., Woodhouse, L., Yarasheski, K. E., Miller, C. A., Askanas, V., Engel, W. K., Bhasin, S., Attardi, G. (2001) Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication Proceedings of the National Academy of Sciences of the United States of America . 98 (7): 4022-4027 .
3 12220698 2002 Del Bo, R., Bordoni, A., Boneschi, F.M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G., Comi, G.P. (2002) Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients Journal of the Neurological Sciences . 202 (40545): 85-91 .
4 16120306 2002 Attardi, G. (2002) Role of mitochondrial DNA in human aging Mitochondrion . 2 (40545): 27-37 .
5 12606714 2003 Coskun, P. E., Ruiz-Pesini, E. E., Wallace, D. C. (2003) Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum Proceedings of the National Academy of Sciences of the United States of America . 100 (5): 2174-2176 .
6 12927765 2003 Del Bo, R., Crimi, M., Sciacco, M., Malferrari, G., Bordoni, A., Napoli, L., Prelle, A., Biunno, I., Moggio, M., Bresolin, N., Scarlato, G., Pietro Comi, G. (2003) High mutational burden in the mtDNA control region from aged muscles: a single-fiber study Neurobiology of Aging . 24 (6): 829-838 .
7 14557557 2003 Del Bo, R., Bordoni, A., Sciacco, M., Di Fonzo, A., Galbiati, S., Crimi, M., Bresolin, N., Comi, G. P. (2003) Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain Neurology . 61 (7): 903-908 .
8 15181170 2004 Wanrooij, S., Luoma, P., van Goethem, G., van Broeckhoven, C., Suomalainen, A., Spelbrink, J. N. (2004) Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA Nucleic Acids Research . 32 (10): 3053-3064 .
9 17698085 2007 da Costa, C. K., Kiyomoto, B. H., Schmidt, B., Oliveira, A. S., Gabbai, A. A., Tengan, C. H. (2007) Age-related mitochondrial DNA point mutations in patients with mitochondrial myopathy Journal of the Neurological Sciences . 263 (40545): 139-144 .
10 24244193 2013 Samuels, D. C., Li, C., Li, B., Song, Z., Torstenson, E., Boyd Clay, H., Rokas, A., Thornton-Wells, T. A., Moore, J. H., Hughes, T. M., Hoffman, R. D., Haines, J. L., Murdock, D. G., Mortlock, D. P., Williams, S. M. (2013) Recurrent tissue-specific mtDNA mutations are common in humans PLoS Genetics . 9 (11): e1003929 .