Brief report: variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg-->Gln mutation in the gene for factor V.
Brief report: variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg-->Gln mutation in the gene for factor V.
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简要报告：由于因子 V 基因中的 Arg-->Gln 突变，对活化蛋白 C 具有抗性的纯合兄弟姐妹中血栓形成的变异性。
DOI：
10.1056/nejm199412083312305
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发表时间：
1994
期刊：
影响因子：
--
通讯作者：
Bauer,KA
中科院分区：
文献类型：
--
作者：
Greengard,JS;Eichinger,S;Griffin,JH;Bauer,KA
特发性深静脉血栓形成患者最常见的实验室异常是对激活蛋白C1的抵抗。根据选择标准，20%至50%的患者可在体外发现对活化蛋白C的抵抗2-6。蛋白C是调节凝血的关键成分，作为一种非活性前体在血浆中循环。当凝血酶与血管内皮细胞上的血栓调节蛋白受体结合时，蛋白C迅速被激活。活化的蛋白C可酶解凝血级联的两个辅助因子，即凝血因子VIIIa和凝血因子Va。因此，它是一种天然的抗凝血剂。
The most frequent laboratory abnormality in patients with idiopathic deep-vein thrombosis is resistance to activated protein C1. Depending on the selection criteria, in vitro resistance to activated protein C can be identified in 20 to 50 percent of patients2–6. Protein C, a key element in the regulation of coagulation, circulates in plasma as an inactive precursor. On contact with thrombin bound to the thrombomodulin receptors on vascular endothelial cells, protein C rapidly becomes activated. Activated protein C enzymatically lyses two cofactors of the coagulation cascade, factor VIIIa and factor Va. It is thus a natural anticoagulant that . . .