Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.

doi:10.1089/dna.1995.14.1

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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 b...

Topics

Base Sequence
Cells, Cultured
Child, Preschool
Dihydrouracil Dehydrogenase (NADP)
Exons
Female
Fibroblasts
Genotype
Humans
Male
Molecular Sequence Data
Netherlands

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oxidoreductases

Pedigree

Point Mutation

Polymerase Chain Reaction

Polymorphism, Genetic

Purine-Pyrimidine Metabolism, Inborn Errors

Source

Open in PubMed

Identifiers

PMID: 7832988
DOI: 10.1089/dna.1995.14.1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7832988-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.PMID 7832988Read ↗

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Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.Semantic proximity Read ↗

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