Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms

N Engl J Med. 1986 Nov 6;315(19):1205-8. doi: 10.1056/NEJM198611063151907.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • DNA / analysis*
  • Female
  • Fetal Diseases / diagnosis*
  • Genetic Carrier Screening
  • Humans
  • Male
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • DNA
  • Ornithine Carbamoyltransferase