DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

J Med Genet. 2005 Apr;42(4):350-7. doi: 10.1136/jmg.2004.022749.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Cells, Cultured
  • Cholesterol / metabolism
  • Codon, Nonsense / genetics
  • Codon, Nonsense / metabolism*
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Humans
  • Infant, Newborn
  • Male
  • Oxidoreductases Acting on CH-CH Group Donors / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors / metabolism
  • Phenotype
  • Pregnancy
  • RNA, Messenger / metabolism*
  • Smith-Lemli-Opitz Syndrome / blood
  • Smith-Lemli-Opitz Syndrome / diagnosis
  • Smith-Lemli-Opitz Syndrome / genetics*
  • Smith-Lemli-Opitz Syndrome / metabolism

Substances

  • Codon, Nonsense
  • RNA, Messenger
  • Cholesterol
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase