Molecular defect in a patient with pyridoxine-responsive homocystinuria

Hum Mol Genet. 1993 Jun;2(6):815-6. doi: 10.1093/hmg/2.6.815.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Blotting, Western
  • Cell Line
  • Cloning, Molecular
  • Cystathionine beta-Synthase / deficiency
  • Cystathionine beta-Synthase / genetics
  • Escherichia coli
  • Female
  • Fibroblasts / enzymology
  • Homocystinuria / genetics*
  • Humans
  • Molecular Sequence Data
  • Recombinant Fusion Proteins / genetics

Substances

  • Recombinant Fusion Proteins
  • Cystathionine beta-Synthase