Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
Vreken
P
P
University of Amsterdam, Department of Pediatrics, The Netherlands.
Van Kuilenburg
A B
AB
Meinsma
R
R
van Gennip
A H
AH
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
D018076:DNA, Complementary; D012313:RNA; D004247:DNA; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)