Cerebrotendinous xanthomatosis.
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 diagnosis provides means for the identification of heterozygotes and pre-symptomatic detection of affected individuals.
Leitersdorf
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Division of Medicine, Hadassah University Hospital, Jerusalem, Israel.
Meiner
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D000818:Animals; D053493:Cholestanetriol 26-Monooxygenase; D003001:Cloning, Molecular; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007585:Jews; D009018:Morocco; D009154:Mutation; D013250:Steroid Hydroxylases / Q000235:genetics; D014973:Xanthomatosis / Q000453:epidemiology / Q000235:genetics*
D018076:DNA, Complementary; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase