Title : Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio.

Pub. Date : 2016 Feb

PMID : 26265035






2 Functional Relationships(s)
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1 Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. Uracil dihydropyrimidine dehydrogenase Homo sapiens
2 We report here the genetic and phenotypic analyses of DPD in a family related to a patient who died after a first cycle of 5-fluorouracil and in 15 additional retrospective patients having a partial DPD deficiency (as measured by plasma dihydrouracil/uracil ratio). Uracil dihydropyrimidine dehydrogenase Homo sapiens