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Article

Alpha-actin-2 mutations in Chinese patients with a non-syndromatic thoracic aortic aneurysm.

BMC medical genetics - 18 Jul 2016

Ke Tie, Han Meng, Zhao Miao, Wang Qing Kenneth, Zhang Huazhi, Zhao Yuanyuan, Ruan Xinlong, Li Hui, Xu Chengqi, Sun Tucheng

Abstract excerpt

BACKGROUND: Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and the genetic basis of TAADs remains to be elucidated. In this study, we assessed gene mutations in a Chinese population with TAADs. METHODS: A cohort of 68 non-syndromic familial TAAD Chinese...

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Source

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Identifiers

PMID: 27431987
DOI: 10.1186/s12881-016-0310-6
PMCID: PMC4950238

Genes

ACTA2
MYH11
SMAD3
TGFBR1
TGFBR2

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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