High frequency of exon 10 mutations in the NOTCH3 gene in Italian CADASIL families: phenotypic peculiarities.
Bianchi
S
S
Rufa
A
A
Ragno
M
M
D'Eramo
C
C
Pescini
F
F
Pantoni
L
L
Cappelli
A
A
Perretti
A
A
Zicari
E
E
Zolo
P
P
Inzitari
D
D
Dotti
M T
MT
Federico
A
A
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
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch