title: Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.
authors.forename: Krati
authors.initials: K
authors.lastname: Shah
authors.forename: Vivek
authors.initials: V
authors.lastname: Mathew
authors.forename: Gian Nicola
authors.initials: GN
authors.lastname: Gallus
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.forename: Sumita
authors.initials: S
authors.lastname: Danda
mesh_terms: D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase