title: Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy.
authors: Neuropathology and Prion Disease Reference Centre, Semmelweis University, Budapest, Hungary; Department of Neurology, County Hospital, Vác, Hungary.
authors: I
authors: I
authors: Kapás
authors: M
authors: M
authors: Katkó
authors: M
authors: M
authors: Harangi
authors: G
authors: G
authors: Paragh
authors: I
authors: I
authors: Balogh
authors: Z
authors: Z
authors: Kóczi
authors: G
authors: G
authors: Regelsberger
authors: M J
authors: MJ
authors: Molnár
authors: G G
authors: GG
authors: Kovacs
mesh_terms: D000328:Adult; D000367:Age Factors; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D006801:Humans; D008032:Limbic System / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D024801:Tauopathies / Q000175:diagnosis* / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis* / Q000235:genetics
chemical_list: C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase