MITOMAP References for Somatic Polymorphism T-C at 5814

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Index PMID Date Reference
1 12813027 2003 Nishigaki, Y., Marti, R., Copeland, W. C., Hirano, M. (2003) Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency Journal of Clinical Investigation . 111 (12): 1913-1921 .
2 16530527 2006 Giordano, C., Sebastiani, M., Plazzi, G., Travaglini, C., Sale, P., Pinti, M., Tancredi, A., Liguori, R., Montagna, P., Bellan, M., Valentino, M. L., Cossarizza, A., Hirano, M., d'Amati, G., Carelli, V. (2006) Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine Gastroenterology . 130 (3): 893-901 .