Heterogenous mutations of the structural gene of human ornithine carbamyltransferase as observed in five personal cases

Enzyme. 1974;18(1):103-13. doi: 10.1159/000459417.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Ammonia / blood
  • Carbamates / metabolism
  • Female
  • Genes*
  • Humans
  • Hydrogen-Ion Concentration
  • Intestines / enzymology
  • Kinetics
  • Liver / enzymology
  • Male
  • Mutation*
  • Ornithine / metabolism
  • Ornithine Carbamoyltransferase / metabolism*
  • Sex Chromosomes

Substances

  • Carbamates
  • Ammonia
  • Ornithine
  • Ornithine Carbamoyltransferase