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Article

Notch3 mutations and the potential for diagnostic testing for CADASIL.

Lancet (London, England) - 22 Nov 1997

Goate A M, Morris J C

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Share to Cerebral Infarction
Share to Leukoencephalopathy, Progressive Multifocal
Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Proto-Oncogene Proteins

Share to Receptor, Notch3

Share to Receptors, Cell Surface

Share to Receptors, Notch

Source

Identifiers

PMID: 9388391
DOI: 10.1016/S0140-6736(97)22047-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Notch3 mutations and the potential for diagnostic testing for CADASIL.PMID 9388391Read ↗

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 ↗

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

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.Semantic proximity Read ↗

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

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

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutationsSemantic proximity Read ↗

Investigating diagnostic sequencing techniques for CADASIL diagnosis.Semantic proximity Read ↗

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

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.Semantic proximity Read ↗

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