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Article

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

European journal of human genetics : EJHG - 1 May 2011

Hoffjan Sabine, Waldmüller Stephan, Blankenfeldt Wulf, Kötting Judith, Gehle Petra, Binner Priska, Epplen Joerg T, Scheffold Thomas

Abstract excerpt

Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and predispose to premature stroke and coronary artery disease. In order to further explore the role of ACTA2 variations in the pathogenesis of TAAD, we sequenced the coding regions of this gene in 40 unrelated German patients with TAAD...

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Source

Open in PubMed Open full text

Identifiers

PMID: 21248741
DOI: 10.1038/ejhg.2010.239
PMCID: PMC3083620

Genes

ACTA2
FBN1
TGFBR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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