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Article

A Novel COL4A2 Mutation Associated with Recurrent Strokes.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Oct 2020

McHugh Daryl C, Esenwa Charles

Abstract excerpt

Mutations in type four collagens, specifically COL4A1 and COL4A2, have been associated with cerebral small vessel disease (SVD), defined as lacunar infarcts, deep intracerebral hemorrhages (ICH), and leukoaraiosis. We present a case of a man with recurrent cerebral infarcts, related to a novel COL4A2 mutation, the p.A1534S variant. Magnetic resonance imaging demonstrated multiple lacunar infarcts, numerous deep...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32912510
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105156

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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