Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli

Adv Exp Med Biol. 1998:431:341-6.

Authors

P Vreken¹, A B van Kuilenburg, R Meinsma, A H van Gennip

Affiliation

¹ Academic Medical Center, University of Amsterdam, Department of Pediatrics, The Netherlands. [email protected]

PMID: 9598088

No abstract available

MeSH terms

Base Sequence
Cells, Cultured
Cloning, Molecular
Dihydrouracil Dehydrogenase (NADP)
Escherichia coli
Female
Fibroblasts / enzymology
Humans
Male
Nuclear Family
Oxidoreductases / deficiency*
Oxidoreductases / genetics*
Oxidoreductases / metabolism
Point Mutation*
Polymerase Chain Reaction
Purine-Pyrimidine Metabolism, Inborn Errors / enzymology*
Purine-Pyrimidine Metabolism, Inborn Errors / genetics
Recombinant Proteins / biosynthesis
Recombinant Proteins / metabolism
Sequence Deletion*

Substances

Recombinant Proteins
Oxidoreductases
Dihydrouracil Dehydrogenase (NADP)