Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male

Hum Mutat. 1998:Suppl 1:S131-3. doi: 10.1002/humu.1380110144.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Amino Acid Substitution
  • Ammonia / blood*
  • Animals
  • Aspartic Acid
  • COS Cells
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Fatal Outcome
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational
  • RNA, Messenger / metabolism
  • Tyrosine

Substances

  • RNA, Messenger
  • Aspartic Acid
  • Tyrosine
  • Ammonia
  • DNA
  • Ornithine Carbamoyltransferase