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Article

Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.

Annals of clinical and laboratory science - 1 Jan 2010

Yoo Eun-Hyung, Choi Seung Hyuk, Jang Shin Yi, Suh Yeon-Lim, Lee Inchul, Song Jae-Kwan, Choe Yeon Hyeon, Kim Jong-Won, Ki Chang-Seok, Kim Duk-Kyung

Abstract excerpt

Non-syndromic familial thoracic aortic aneurysms and dissections (TAADs), inherited in an autosomal dominant manner in up to 19% of patients, are genetically heterogeneous. The ACTA2 gene, which encodes the vascular smooth muscle cell (SMC)-specific isoform of alpha-actin, is known to cause TAADs...

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Source

Identifiers

PMID: 20689142

Genes

ACTA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20689142-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation.PMID 20689142Read ↗

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