First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
Mazzei
R
R
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. r.mazzei@isn.cnr.it
Guidetti
D
D
Ungaro
C
C
Conforti
F L
FL
Muglia
M
M
Cenacchi
G
G
Lanza
P L
PL
Patitucci
A
A
Sprovieri
T
T
Riguzzi
P
P
Magariello
A
A
Gabriele
A L
AL
Citrigno
L
L
Preda
P
P
Quattrone
A
A
D000328:Adult; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D013702:Temporal Lobe / Q000473:pathology
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch