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Article

Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific reports - 14 Aug 2015

Guo Jun, Cai Lun, Jia Lixin, Li Xiaoyan, Xi Xin, Zheng Shuai, Liu Xuxia, Piao Chunmei, Liu Tingting, Sun Zhongsheng, Cai Tao, Du Jie

Abstract excerpt

Genetic etiology in majority of patients with sporadic thoracic aortic aneurysm and dissections (STAAD) remains unknown. Recent GWAS study suggested common variant(s) in FBN1 is associated with STAAD. The present study aims to test this hypothesis and to identify mutation spectrum by targeted exome sequencing of the FBN1 gene in 146 unrelated patients with STAAD. Totally, 15.75% of FBN1 variants in STAAD were...

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Identifiers

PMID: 26272055
DOI: 10.1038/srep13115
PMCID: PMC4536522

Genes

FBN1

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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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