Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
Ferreira
Susana
S
Faculdade de Medicina, Universidade do Porto, Serviço de Genética Médica, Portugal. susanadg@med.up.pt
Costa
Cristina
C
Oliveira
João Paulo
JP
D046589:CADASIL / Q000235:genetics*; D006801:Humans; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch