Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency

Hum Mutat. 1994;3(4):402-6. doi: 10.1002/humu.1380030415.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Arginine / genetics
  • Aspartic Acid / genetics
  • Base Sequence
  • DNA Mutational Analysis
  • DNA Primers
  • DNA, Single-Stranded / genetics
  • Glycine / genetics
  • Histidine / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Isoleucine / genetics
  • Male
  • Methionine / genetics
  • Molecular Epidemiology
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Tryptophan / genetics
  • X Chromosome

Substances

  • DNA Primers
  • DNA, Single-Stranded
  • Isoleucine
  • Aspartic Acid
  • Histidine
  • Tryptophan
  • Arginine
  • Methionine
  • Ornithine Carbamoyltransferase
  • Glycine