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Differential Analysis of Pathogenic Variants in Thoracic Aortic Aneurysm and Dissection at Different Ages.

Genetic testing and molecular biomarkers - 1 Nov 2024

Luo Shilei, Leng Fei, Zhao He, Li Wei, Wang Qiaochu, Guo Jun

Abstract excerpt

Objective: To identify genetic variants associated with Stanford A thoracic aortic aneurysm and dissection (ATAAD) using whole-exome sequencing (WES) and analyze positive mutation rates among patients of different onset ages. Methods: WES was performed on 62 sporadic Chinese ATAAD patients (51-74 years old), and then grouped based on onset age together with 73 previously reported TAAD patients (19-50 years old):...

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PMID: 39546729
DOI: 10.1089/gtmb.2024.0139

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