Article
Cerebrotendinous xanthomatosis.
Current opinion in lipidology - 1 Apr 1994
Leitersdorf E, Meiner V
Abstract excerpt
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology of this multisystem disease. Molecular diagn...
Topics
- Animals
- Cholestanetriol 26-Monooxygenase
- Cloning, Molecular
- Cytochrome P-450 Enzyme System
- DNA, Complementary
- Humans
- Jews
- Morocco
- Mutation
- Steroid Hydroxylases
- Xanthomatosis