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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

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18386331

Genes

NOTCH3

Provenance

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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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