Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O.
No abstract available

MeSH terms

  • Age of Onset
  • Ammonia / blood*
  • Female
  • Humans
  • Infant, Newborn
  • Liver / enzymology
  • Male
  • Metabolism, Inborn Errors / blood
  • Metabolism, Inborn Errors / genetics*
  • Multigene Family*
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase / metabolism
  • Point Mutation*
  • Sequence Deletion

Substances

  • Ammonia
  • Ornithine Carbamoyltransferase