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Article

Characterization of the human dihydropyrimidine dehydrogenase gene.

Genomics - 1 Aug 1998

Wei X, Elizondo G, Sapone A, McLeod H L, Raunio H, Fernandez-Salguero P, Gonzalez F J

Abstract excerpt

Dihydropyrimidine dehydrogenase (DPD) catabolizes endogenous pyrimidines and pyrimidine-based antimetabolite drugs. A deficiency in human DPD is associated with congenital thymine-uraciluria in pediatric patients and severe 5-fluorouracil toxicity in cancer patients. The dihydropyrimidine dehydrogenase gene (DPYD) was isolated, and its physical map and exon-intron organization were determined by analysis of P1,...

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Source

Identifiers

PMID: 9721209
DOI: 10.1006/geno.1998.5379

Genes

DPYD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Characterization of the human dihydropyrimidine dehydrogenase gene.PMID 9721209Read ↗

Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.Semantic proximity Read ↗

Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography.Semantic proximity Read ↗

Functional Characterization of 21 Allelic Variants of Dihydropyrimidine Dehydrogenase Identified in 1070 Japanese Individuals.Semantic proximity Read ↗

Dihydropyrimidine dehydrogenase (DPD) deficiency: novel mutations in the DPD gene.Semantic proximity Read ↗

Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.Semantic proximity Read ↗

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.Semantic proximity Read ↗

High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.Semantic proximity Read ↗

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.Semantic proximity Read ↗

A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphismsSemantic proximity Read ↗

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.Semantic proximity Read ↗

Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.Semantic proximity Read ↗

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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