A pathogenic rare mutation on exon 22 of the NOTCH3 gene disclosed in an Italian patient affected by CADASIL.
Ungaro
C
C
Servillo
P
P
Mazzei
Rosalucia
R
Consoli
D
D
Conforti
F L
FL
Sprovieri
T
T
Lanza
P L
PL
Quattrone
A
A
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*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch