A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma

Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Ammonia / blood*
  • Coma / etiology*
  • Coma / genetics
  • Exons*
  • Female
  • Glutamic Acid
  • Humans
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Pedigree
  • Polymerase Chain Reaction
  • Reading Frames
  • Sequence Deletion*

Substances

  • Glutamic Acid
  • Ammonia
  • Ornithine Carbamoyltransferase