Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency

Hum Mutat. 1998:Suppl 1:S5-7. doi: 10.1002/humu.1380110103.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Amino Acid Sequence
  • Base Sequence
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Female
  • Humans
  • Male
  • Mutagenesis, Insertional
  • Mutation
  • Mutation, Missense
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Point Mutation
  • Sequence Deletion

Substances

  • DNA, Complementary
  • DNA
  • Ornithine Carbamoyltransferase