A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern

Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831.
No abstract available

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Age of Onset
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / epidemiology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acid Sequence
  • Ammonia / blood
  • Base Sequence
  • Child
  • DNA, Single-Stranded / genetics
  • Exons*
  • Fatal Outcome
  • Genes
  • Humans
  • Infant
  • Kinetics
  • Liver / enzymology
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Ornithine Carbamoyltransferase / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Point Mutation*
  • Polymorphism, Genetic
  • Sequence Alignment

Substances

  • DNA, Single-Stranded
  • Ammonia
  • Ornithine Carbamoyltransferase

Associated data

  • GENBANK/S73640