Publications - Thymidine Phosphorylase Defiency

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ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochonrial meurogastointestinal encephalomyopathy. Nishigaki, Y., Marti, R. and Hirano, M. Human Molecular Genetics 13: 91-101, 2004. [paper] 

Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. Nishigaki, Y., Marti, R., Copeland, W. and Hirano, M. J. Clin. Invest. 111: 1913-1921, 2003. [paper]