title: High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: A
authors.initials: A
authors.lastname: Rufa
authors.forename: M
authors.initials: M
authors.lastname: Ragno
authors.forename: C
authors.initials: C
authors.lastname: D'Eramo
authors.forename: F
authors.initials: F
authors.lastname: Pescini
authors.forename: L
authors.initials: L
authors.lastname: Pantoni
authors.forename: A
authors.initials: A
authors.lastname: Cappelli
authors.forename: A
authors.initials: A
authors.lastname: Perretti
authors.forename: E
authors.initials: E
authors.lastname: Zicari
authors.forename: P
authors.initials: P
authors.lastname: Zolo
authors.forename: D
authors.initials: D
authors.lastname: Inzitari
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D046589:CADASIL / Q000235:genetics*; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch