MITOMAP References for Mutation T-C at 4681

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Index PMID Date Reference
1 29253894 2017 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
2 16996290 2007 Ugalde, C., Hinttala, R., Timal, S., Smeets, R., Rodenburg, R. J., Uusimaa, J., van Heuvel, L. P., Nijtmans, L. G., Majamaa, K., Smeitink, J. A. (2007) Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome Mol Genet Metab . 90 (1): 10-14 .
3 21457906 2011 Pereira, L., Soares, P., Radivojac, P., Li, B., Samuels, D. C. (2011) Comparing phylogeny and the predicted pathogenicity of protein variations reveals equal purifying selection across the global human mtDNA diversity American Journal of Human Genetics . 88 (4): 433-439 .
4 16738010 2006 Hinttala, R., Smeets, R., Moilanen, J. S., Ugalde, C., Uusimaa, J., Smeitink, J. A., Majamaa, K. (2006) Analysis of mitochondrial DNA sequences in children with isolated or combined oxidative phosphorylation system deficiency Journal of Medical Genetics . 43 (11): 881-886 .