title: Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL.
authors.affiliation: Neurology Department, Universitat Autònoma de Barcelona, Vall d'Hebrón Hospital, Barcelona, Spain. adelrio@ir.vhebron.net
authors.forename: A
authors.initials: A
authors.lastname: del Río-Espínola
authors.forename: I
authors.initials: I
authors.lastname: Fernández-Cadenas
authors.forename: M
authors.initials: M
authors.lastname: Mendióroz
authors.forename: M
authors.initials: M
authors.lastname: Gutiérrez-Agullo
authors.forename: M T
authors.initials: MT
authors.lastname: Fernández
authors.forename: J
authors.initials: J
authors.lastname: Fernández-Morales
authors.forename: P
authors.initials: P
authors.lastname: Delgado
authors.forename: S
authors.initials: S
authors.lastname: Domingues-Montanari
authors.forename: E
authors.initials: E
authors.lastname: Solé
authors.forename: J
authors.initials: J
authors.lastname: Montaner
mesh_terms: D019943:Amino Acid Substitution; D046589:CADASIL / Q000235:genetics*; D003062:Codon / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
chemical_list: D003062:Codon; C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch