MITOMAP References for Mutation C-CC at 9537

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Index PMID Date Reference
1 11063732 2000 Tiranti, V., Corona, P., Greco, M., Taanman, J. W., Carrara, F., Lamantea, E., Nijtmans, L., Uziel, G., Zeviani, M. (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome Human Molecular Genetics . 9 (18): 2733-2742 .
2 18977334 2009 Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M., Tiranti, V. (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy Biochimica et Biophysica Acta . 1787 (5): 491-501 .