Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis

J Neurol. 2002 Sep;249(9):1311-2. doi: 10.1007/s00415-002-0762-9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Cholestanetriol 26-Monooxygenase
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Mutation / genetics*
  • Mutation, Missense
  • Steroid Hydroxylases / genetics*
  • Taiwan
  • Xanthomatosis, Cerebrotendinous / genetics*
  • Xanthomatosis, Cerebrotendinous / pathology

Substances

  • Steroid Hydroxylases
  • CYP27A1 protein, human
  • Cholestanetriol 26-Monooxygenase