Article
Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.
American journal of human genetics - 1 Nov 1994
Leitersdorf E, Safadi R, Meiner V, Reshef A, Björkhem I, Friedlander Y, Morkos S, Berginer V M
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27 hydroxylase gene (CYP27). Clinically, a multitude of neurological, skeletal, and vascular manifestations are usually present. Premature atherosclerosis has been reported in CT...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Cholestanetriol 26-Monooxygenase
- Cytochrome P-450 Enzyme System
- Female
- Genotype
- Humans
- Infant
- Israel
- Male
- Middle Aged
- Molecular Sequence Data