title: Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Yuan-Chung
authors.initials: YC
authors.lastname: Huang
authors.forename: Mary G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.forename: Ping-Keung
authors.initials: PK
authors.lastname: Yip
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D013250:Steroid Hydroxylases / Q000235:genetics*; D013624:Taiwan; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics* / Q000473:pathology
chemical_list: D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase