A serine-to-phenylalanine substitution leads to loss of alanine:glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1

Hum Mol Genet. 1992 Nov;1(8):643-4. doi: 10.1093/hmg/1.8.643.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Alanine Transaminase / genetics*
  • Alanine Transaminase / metabolism
  • Base Sequence
  • Catalysis
  • DNA
  • Female
  • Humans
  • Hyperoxaluria / enzymology
  • Hyperoxaluria / genetics*
  • Male
  • Molecular Sequence Data
  • Phenylalanine / genetics*
  • Polymerase Chain Reaction
  • Serine / genetics*
  • Transaminases*

Substances

  • Serine
  • Phenylalanine
  • DNA
  • Transaminases
  • Alanine Transaminase
  • Alanine-glyoxylate transaminase

Associated data

  • GENBANK/D13368