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A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphisms

1 Mar 2002

Abstract excerpt

A pharmacogenetic syndrome caused by molecular defects in the dihydropyrimidine dehydrogenase gene (DPYD ) results in partial to complete loss of dihydropyrimidine dehydrogenase (DPD) enzyme activity with patients exhibiting life-threatening toxicity following administration of routine doses of 5-fluorouracil. To date, more than 19 reported mutations have been putatively associated with DPD deficiency with 16...

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PMID: 11875367
DOI: 10.1097/00008571-200203000-00007

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A comparative analysis of translated dihydropyrimidine dehydrogenase cDNA; conservation of functional domains and relevance to genetic polymorphismsPMID 11875367Read ↗

Comparative Functional Analysis of <i>DPYD</i> Variants of Potential Clinical Relevance to Dihydropyrimidine Dehydrogenase ActivitySemantic 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 ↗

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

DPYD genotyping and 5-fluoropyrimidine toxicity: An overview of systematic reviews protocol.Semantic proximity Read ↗

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

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

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

Predicting Dihydropyrimidine Dehydrogenase Deficiency and Related 5-Fluorouracil Toxicity: Opportunities and Challenges of DPYD Exon Sequencing and the Role of Phenotyping AssaysSemantic proximity Read ↗

Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.Semantic proximity Read ↗

Ethnic Diversity of DPD Activity and the DPYD Gene: Review of the LiteratureSemantic proximity Read ↗

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.Semantic proximity Read ↗

Characterization of a rare nonpathogenic sequence variant (c.1905C>T) of the dihydropyrimidine dehydrogenase gene (DPYD).Semantic proximity Read ↗

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