Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

Hum Mutat. 1998:Suppl 1:S81-4. doi: 10.1002/humu.1380110128.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Amino Acid Substitution
  • Ammonia / blood*
  • Base Sequence
  • Child
  • Child, Preschool
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Introns / genetics
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Point Mutation
  • Sequence Deletion

Substances

  • Ammonia
  • Ornithine Carbamoyltransferase