Article
Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.
Journal of lipid research - 1 Mar 1994
Reshef A, Meiner V, Berginer V M, Leitersdorf E
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature ather...
Topics
- Africa, Northern
- Algeria
- Base Sequence
- Cholestanetriol 26-Monooxygenase
- Cytochrome P-450 Enzyme System
- Humans
- Jews
- Molecular Sequence Data
- Morocco
- Mutation
- Pedigree
- Polymerase Chain Reaction