Molecular detection and correction of ornithine transcarbamylase deficiency

Trends Genet. 1990 Oct;6(10):335-9. doi: 10.1016/0168-9525(90)90255-5.

Abstract

The application of new diagnostic techniques has led to improvement in carrier detection and prenatal diagnosis in ornithine transcarbamylase deficiency. Progress has also been made towards somatic gene therapy.

Publication types

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

MeSH terms

  • Animals
  • Female
  • Genes
  • Genetic Carrier Screening
  • Genetic Therapy
  • Humans
  • Male
  • Mice
  • Mutation
  • Ornithine Carbamoyltransferase / genetics
  • Ornithine Carbamoyltransferase / metabolism
  • Ornithine Carbamoyltransferase Deficiency Disease*
  • Prenatal Diagnosis

Substances

  • Ornithine Carbamoyltransferase