Gene symbol: NOTCH3. Disease: CADASIL.
Bianchi
S
S
Department of Neurological and Behavioural Sciences, University of Siena, Policlinico Le Scotte, Italy. bianchi22@unisi.it
Scali
O
O
Dotti
M T
MT
Pantoni
L
L
Parnetti
L
L
Inzitari
D
D
Federico
A
A
D019943:Amino Acid Substitution; D046589:CADASIL / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
D018389:Codon, Nonsense; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch