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Article

Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL.

Genomics - 1 Jan 2004

Donahue Christine P, Kosik Kenneth S

Abstract excerpt

Mutations in Notch3 cause the syndrome CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The mechanism by which these mutations result in a CADASIL phenotype has been widely speculated upon. A first step toward understanding a disease mechanism...

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Identifiers

PMID: 14667809
DOI: 10.1016/s0888-7543(03)00206-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14667809-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Distribution pattern of Notch3 mutations suggests a gain-of-function mechanism for CADASIL.PMID 14667809Read ↗

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