A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

J Inherit Metab Dis. 1995;18(3):356-7. doi: 10.1007/BF00710430.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Codon
  • Humans
  • Infant, Newborn
  • Male
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Point Mutation*
  • Polymerase Chain Reaction

Substances

  • Codon
  • Ornithine Carbamoyltransferase