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Updated: Jun 9, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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使用下一代测序 (NGS) 技术和基因型-表型相关性识别与遗传性胸前大动脉疾病 (HTADs) 相关的遗传变异

Lăcrămioara Ionela Butnariu1, Georgiana Russu2, Alina-Costina Luca2,3

  • 1Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Pharmacy, 700115 Iași, Romania.

International journal of molecular sciences
|October 26, 2024
PubMed
概括

基因测试发现了FBN1,TGFBR2和SLC2A10基因的突变,导致遗传性胸前大动脉疾病 (HTAD),包括马凡综合征和洛伊斯-迪茨综合征. 早期遗传诊断和监测对于预防大动脉事件至关重要.

关键词:
洛伊斯迪茨综合征 (LoeysDietz综合征) 是一个马芬综合征是什么意思 马芬综合征是什么意思一个大动脉动脉瘤.大动脉切割剖析.动脉扭曲综合征是一种动脉扭曲综合征.基因检测 基因检测是指基因检测.遗传性胸前大动脉疾病

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