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Article

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

The Biochemical journal - 15 May 2002

van Kuilenburg André B P, Dobritzsch Doreen, Meinsma Rutger, Haasjes Janet, Waterham Hans R, Nowaczyk Malgorzata J M, Maropoulos George D, Hein Guido, Kalhoff Hermann, Kirk Jean M, Baaske Holger, Aukett Anne, Duley John A, Ward Kate P, Lindqvist Ylva, van Gennip Albert H

Abstract excerpt

Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterized by thymine-uraciluria in homozygous deficient patients. Cancer patients with a partial deficiency of DPD are at risk of developing severe life-threatening toxicities after the administration of 5-fluorouracil. Thus, identification of novel disease-causing mutations is of the utmost importance to allow screening of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11988088
DOI: 10.1042/bj3640157
PMCID: PMC1222557

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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