MITOMAP References for Mutation T-C at 9478

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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 20525945 2010 Mkaouar-Rebai, E., Ellouze, E., Chamkha, I., Kammoun, F., Triki, C., Fakhfakh, F. (2010) Molecular-clinical correlation in a family with a novel heteroplasmic Leigh Syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene Journal of Child Neurology . 26 (1): 12-20 .
3 23301511 2013 Mkaouar-Rebai, E., Chamkha, I., Mezghani, N., Ben Ayed, I., Fakhfakh, F. (2013) Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study Mitochondrial DNA . 24 (3): 163-178 .