High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey

Clin Genet. 2012 Jun;81(6):598-601. doi: 10.1111/j.1399-0004.2011.01750.x. Epub 2011 Dec 28.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Methionine / genetics*
  • Mutation*
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Smith-Lemli-Opitz Syndrome / ethnology
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Threonine / genetics*
  • Turkey

Substances

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