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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.

Human genetics - 1 Dec 2007

Bianchi Silvia, Dotti M T, De Stefano N, Stromillo M L, Federico A

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Amino Acid Substitution
CADASIL
Codon
Exons
Humans
Male
Mutation, Missense
Pedigree
Phenotype
Receptor, Notch3
Receptors, Notch

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18386331

Genes

NOTCH3

Provenance

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

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.PMID 18386331Read ↗

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 ↗

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

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.Semantic proximity Read ↗

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresSemantic proximity Read ↗

Notch3 mutations and the potential for diagnostic testing for CADASIL.Semantic proximity Read ↗

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.Semantic proximity Read ↗

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.Semantic proximity Read ↗

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.Semantic proximity Read ↗

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