MITOMAP References for RNA Mutation G5556A

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Index PMID Date Reference
1 19809478 2010 Smits, P., Mattijssen, S., Morava, E., van den Brand, M., van den Brandt, F., Wijburg, F., Pruijn, G., Smeitink, J., Nijtmans, L., Rodenburg, R., van den Heuvel, L. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects European Journal of Human Genetics . 18 (3): 324-329 .
2 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 .