title: Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia.
authors.affiliation: Medical Genetics Unit, San Luigi Gonzaga University Hospital, Regione Gonzole 10, 10043, Orbassano, TO, Italy, giorgia.mandrile@unito.it.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mandrile
authors.forename: Gian Nicola
authors.initials: GN
authors.lastname: Gallus
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Mura
authors.forename: Alessia
authors.initials: A
authors.lastname: Di Sapio
authors.forename: Maria Alessandra
authors.initials: MA
authors.lastname: Sotgiu
authors.forename: Andrea
authors.initials: A
authors.lastname: Montella
authors.forename: Daniela Francesca
authors.initials: DF
authors.lastname: Giachino
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Lucia
authors.initials: L
authors.lastname: Ulgheri
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D019943:Amino Acid Substitution; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000378:metabolism; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010264:Paraplegia / Q000175:diagnosis; D010641:Phenotype; D017354:Point Mutation; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics*
chemical_list: D002635:Chenodeoxycholic Acid; D004083:Cholestanol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase