Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer

J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Blotting, Northern
  • Blotting, Southern
  • Cytochrome c Group / metabolism
  • DNA / genetics
  • Fibroblasts / enzymology
  • Gene Expression Regulation, Enzymologic
  • Genome, Human
  • Humans
  • Phenylketonurias*
  • Transfection

Substances

  • Cytochrome c Group
  • DNA