MITOMAP References for Mutation G-A at 6930

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1 10441567 1999 Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A. L., Pallotti, F., Bonilla, E., Shanske, S., Fu, J., Sue, C. M., Angelini, C., DiMauro, S., Manfredi, G. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV American Journal of Human Genetics . 65 (3): 611-620 .
2 11595737 2001 D'Aurelio, M., Pallotti, F., Barrientos, A., Gajewski, C. D., Kwong, J. Q., Bruno, C., Beal, M. F., Manfredi, G. (2001) In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I Journal of Biological Chemistry . 276 (50): 46925-46932 .
3 20547844 2010 Suen, D. F., Narendra, D. P., Tanaka, A., Manfredi, G., Youle, R. J. (2010) Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells Proceedings of the National Academy of Sciences of the United States of America . 107 (26): 11835-11840 .