Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred

N Engl J Med. 1992 Oct 22;327(17):1216-9. doi: 10.1056/NEJM199210223271706.
No abstract available

Publication types

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

MeSH terms

  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / deficiency*
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
  • DNA / analysis
  • Disorders of Sex Development / genetics
  • Dominican Republic
  • Exons
  • Female
  • Humans
  • Male
  • Mutagenesis, Site-Directed
  • Pedigree

Substances

  • DNA
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase