title: A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis.
authors.affiliation: Department of Emergency Medicine, College of Medicine, National Cheng-Kung University and Hospital, Tainan, Taiwan.
authors.forename: Wen-Chau
authors.initials: WC
authors.lastname: Chen
authors.forename: Kuo-Chen
authors.initials: KC
authors.lastname: Wu
authors.forename: Chih-Hsiung
authors.initials: CH
authors.lastname: Hu
authors.forename: Tai-Chang
authors.initials: TC
authors.lastname: Chern
authors.forename: I-Ming
authors.initials: IM
authors.lastname: Jou
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D013624:Taiwan; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics*
chemical_list: D053493:Cholestanetriol 26-Monooxygenase