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- [5] Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients European Journal of Human Genetics, 2003, 11 : 102 - 104
- [7] Erratum: Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients European Journal of Human Genetics, 2003, 11 : 551 - 551
- [9] Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE Gene Therapy, 2011, 18 : 795 - 806