title: Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
authors.affiliation: University of Amsterdam, Department of Pediatrics, The Netherlands.
authors.forename: P
authors.initials: P
authors.lastname: Vreken
authors.forename: A B
authors.initials: AB
authors.lastname: Van Kuilenburg
authors.forename: R
authors.initials: R
authors.lastname: Meinsma
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
mesh_terms: D002648:Child; D004247:DNA / Q000302:isolation & purification; D018076:DNA, Complementary / Q000096:biosynthesis / Q000235:genetics; D042943:Dihydrouracil Dehydrogenase (NADP); D005347:Fibroblasts / Q000378:metabolism; D016368:Frameshift Mutation; D016678:Genome; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010088:Oxidoreductases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics; D012313:RNA / Q000302:isolation & purification
chemical_list: D018076:DNA, Complementary; D012313:RNA; D004247:DNA; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)