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在一家患有I型遗传性血管的家庭中,识别出一种难以捉摸的SERPING1删除,使用软剪切

Keith Wetherby1, Joseph Chiao1, Emily Faulkner1

  • 1Virant Diagnostics, Inc., Wheaton, MD, United States.

Frontiers in allergy
|May 2, 2025
PubMed
概括

在一家患有遗传性血管 (HAE) 的家庭中发现了SERPING1基因的新型缺失,尽管标准遗传测试呈阴性. 这一发现强调了先进技术的重要性,例如软剪切分析用于诊断HAE.

关键词:
在SERPING1中使用.c1 抑制剂 (C1INH) 的使用.遗传性血管 (HAE) 是一种多重结依赖的探头放大 (MLPA)下一代测序 (NGS) 是指下一代的测序.软切割软切割的时间

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