MITOMAP References for Mutation G-A at 8950

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Index PMID Date Reference
1 16196519 2005 Abu-Amero, K. K., Bosley, T. M. (2005) Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin Archives of Pathology and Laboratory Medicine . 129 (10): 1295-1298 .
2 18495510 2008 Brautbar, A., Wang, J., Abdenur, J. E., Chang, R. C., Thomas, J. A., Grebe, T. A., Lim, C., Weng, S. W., Graham, B. H., Wong, L. J. (2008) The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle Molecular Genetics and Metabolism . 94 (4): 485-490 .
3 30763462 2019 Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 .