Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family

Hum Mol Genet. 1994 Jan;3(1):193-4. doi: 10.1093/hmg/3.1.193.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cholestanetriol 26-Monooxygenase
  • Codon
  • Cytochrome P-450 Enzyme System / genetics*
  • DNA / genetics
  • DNA Primers
  • Exons
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Netherlands / ethnology
  • Polymerase Chain Reaction
  • South Africa
  • Steroid Hydroxylases / genetics*
  • Terminator Regions, Genetic*
  • Xanthomatosis / enzymology
  • Xanthomatosis / genetics*

Substances

  • Codon
  • DNA Primers
  • DNA
  • Cytochrome P-450 Enzyme System
  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase