Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.
Bianchi
Silvia
S
Dept. Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy. bianchi22@unisi.it
Dotti
M T
MT
De Stefano
N
N
Stromillo
M L
ML
Federico
A
A
D000328:Adult; D019943:Amino Acid Substitution; D046589:CADASIL / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005091:Exons; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000378:metabolism*
D003062:Codon; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch