Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.
Ferreira
Susana
S
Faculdade de Medicina, Universade do Porto, Serviço de Genética Médica, and Hospital Egas Moniz, Lisboa, Portugal. susanadg@med.up.pt
Malheiro
Filipa
F
Oliveira
João Paulo
JP
D001927:Brain Diseases / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch