Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada

J Med Genet. 2002 Jun;39(6):E31. doi: 10.1136/jmg.39.6.e31.
No abstract available

Publication types

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

MeSH terms

  • Canada
  • Gene Frequency*
  • Genetic Carrier Screening
  • Humans
  • Mutation*
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Polymorphism, Single Nucleotide
  • Smith-Lemli-Opitz Syndrome / genetics*

Substances

  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase