Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene

J Inherit Metab Dis. 1997 Jul;20(3):335-8. doi: 10.1023/a:1005357307122.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • DNA / isolation & purification
  • DNA, Complementary / biosynthesis
  • DNA, Complementary / genetics
  • Dihydrouracil Dehydrogenase (NADP)
  • Fibroblasts / metabolism
  • Frameshift Mutation
  • Genome
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Male
  • Oxidoreductases / genetics*
  • Pedigree
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Purine-Pyrimidine Metabolism, Inborn Errors / enzymology
  • Purine-Pyrimidine Metabolism, Inborn Errors / genetics
  • RNA / isolation & purification

Substances

  • DNA, Complementary
  • RNA
  • DNA
  • Oxidoreductases
  • Dihydrouracil Dehydrogenase (NADP)