A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27

Clin Genet. 2002 Jan;61(1):77-8. doi: 10.1034/j.1399-0004.2002.610116.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Asian People / genetics
  • Cholestanetriol 26-Monooxygenase
  • Cytochrome P-450 Enzyme System / chemistry*
  • Cytochrome P-450 Enzyme System / genetics*
  • Female
  • Humans
  • Japan
  • Male
  • Mutation / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Tertiary
  • Steroid Hydroxylases / chemistry*
  • Steroid Hydroxylases / genetics*
  • Xanthomatosis, Cerebrotendinous / enzymology*
  • Xanthomatosis, Cerebrotendinous / genetics*

Substances

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