title: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.
authors.affiliation: Dept. Neurological and Behavioural Sciences, University of Siena, Siena, Viale Bracci, 2, 53100, Siena, Italy. bianchi22@unisi.it
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Perretti
authors.forename: A
authors.initials: A
authors.lastname: De Rosa
authors.forename: F
authors.initials: F
authors.lastname: Manganelli
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D019943:Amino Acid Substitution; D046589:CADASIL / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000378:metabolism*
chemical_list: D003062:Codon; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch