Seven new mutations in the human ornithine transcarbamylase gene

Hum Mutat. 1994;4(1):57-60. doi: 10.1002/humu.1380040109.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Ammonia / blood
  • Base Sequence
  • Child
  • Child, Preschool
  • Codon / genetics
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA, Single-Stranded / genetics
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Phenotype
  • Polymorphism, Genetic

Substances

  • Codon
  • DNA, Single-Stranded
  • Ammonia
  • DNA
  • Ornithine Carbamoyltransferase