Article
Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
DNA and cell biology - 1 Jan 1995
Meinsma R, Fernandez-Salguero P, Van Kuilenburg A B, Van Gennip A H, Gonzalez F J
Abstract excerpt
A condition called thymine uracilurea has been described that is due to a lack of dihydropyrimidine dehydrogenase (DPD) activity. Cancer patients experiencing acute 5-fluorouracil toxicity also have lower-than-normal DPD activities. However, to date, the molecular basis of this disorder has not been addressed. In this study, the phenotype and genotype of a family that presents a patient showing no DPD activity...
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