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Updated: Jul 18, 2025

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系统方法揭示了SERPING1影响分离的变种将在捷克国家HAE队列中得到高度代表

Hana Grombirikova1,2, Viktor Bily1,2, Premysl Soucek1,2

  • 1Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.

Journal of clinical immunology
|August 24, 2023
PubMed
概括

由于C1抑制剂缺乏 (C1-INH-HAE) 导致的遗传性血管的遗传查在捷克患者中发现了56种SERPING1变异,其中包括5种新型变异. 这项研究增强了对C1-INH-HAE遗传学和基因型-表型相关性的理解.

关键词:
在C1-INH-HAE中使用.在HAEAE中.在SERPING1中使用.基因型表型关系关系遗传性血管功能拼接 拼接 拼接 拼接诊断时间到诊断时间.

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