title: A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.
authors.forename: C
authors.initials: C
authors.lastname: Ungaro
authors.forename: P
authors.initials: P
authors.lastname: Servillo
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: D
authors.initials: D
authors.lastname: Consoli
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.forename: T
authors.initials: T
authors.lastname: Sprovieri
authors.forename: P L
authors.initials: PL
authors.lastname: Lanza
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D001921:Brain / Q000473:pathology; D046589:CADASIL / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D020125:Mutation, Missense; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch