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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Human genetics - 1 Jun 2007

Ferreira Susana, Fontoura Paulo, Guerreiro Rui, Oliveira João Paulo

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CADASIL
NOTCH3 gene
Mutation
Receptor, Notch3
Receptors, Notch

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17879447

Genes

NOTCH3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).PMID 17879447Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.Semantic proximity Read ↗

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisitedSemantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

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Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.Semantic proximity Read ↗

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.Semantic proximity Read ↗

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.Semantic proximity Read ↗

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