Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.
Vreken
P
P
Academic Medical Center, University of Amsterdam, Department of Pediatrics, The Netherlands. p.vreken@amc.uva.nl
van Kuilenburg
A B
AB
Meinsma
R
R
van Gennip
A H
AH
D001483:Base Sequence; D002478:Cells, Cultured; D003001:Cloning, Molecular; D042943:Dihydrouracil Dehydrogenase (NADP); D004926:Escherichia coli; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D008297:Male; D009679:Nuclear Family; D010088:Oxidoreductases / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D011994:Recombinant Proteins / Q000096:biosynthesis / Q000378:metabolism; D017384:Sequence Deletion
D011994:Recombinant Proteins; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP)