title: Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.
authors.forename: Michael K
authors.initials: MK
authors.lastname: Liem
authors.forename: Saskia A J
authors.initials: SA
authors.lastname: Lesnik Oberstein
authors.forename: Magdalena J
authors.initials: MJ
authors.lastname: Vollebregt
authors.forename: Huub A M
authors.initials: HA
authors.lastname: Middelkoop
authors.forename: Jeroen
authors.initials: J
authors.lastname: van der Grond
authors.forename: Apollonia T J M
authors.initials: AT
authors.lastname: Helderman-van den Enden
mesh_terms: D000368:Aged; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch