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Updated: Jul 20, 2025

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Published on: September 9, 2012

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ACMG分类的实用性,以支持对因子VII缺乏症患者分子遗传测试结果的解释

Rosa Sonja Alesci1, Carola Hecking1, Benjamin Racké2

  • 1IMD Blood Coagulation Centre, Bad Homburg, Germany.

Frontiers in medicine
|July 31, 2023
PubMed
概括

患有因子VII (FVII) 缺乏症的特定遗传变异的患者患出血的风险更高. 这种分类框架有助于预测罕见遗传性疾病中的出血严重程度.

关键词:
这是ACMG的分类.在FVII中存在缺陷.遗传变异 遗传变异 遗传变异基因型 基因型 基因型现象型 现象型 是一种现象型.

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