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Article

Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.

Human genomics - 24 Nov 2016

Maksemous Neven, Smith Robert A, Haupt Larisa M, Griffiths Lyn R

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults. CADASIL has previously been shown to be caused by varying mutations in the NOTCH3 gene. The disorder is often misdiagnosed due to its significant clinical heterogeneic manifestation with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Source

Open in PubMed Open full text

Identifiers

PMID: 27881154
DOI: 10.1186/s40246-016-0093-z
PMCID: PMC5122195

Genes

NOTCH3
EGF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.PMID 27881154Read ↗

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