缺陷的因子 IX 导致血栓性血小板增多症
中文名称
通路描述
健康个体中，因子 IXa（FIXa）与因子 VIIIa 在激活血小板表面形成复合物，高效催化形成激活的因子 X。FIX 第 384 位谷氨酸被替换为亮氨酸（FIX R384L，也称为 FIX Padua）是一种获得功能突变，导致患者静脉血栓形成时 FIX 凝血活性升高（Simioni P 等，2009）。
英文描述
Defective factor IX causes thrombophilia In healthy individuals factor IXa (FIXa), in a complex with factor VIIIa on the surfaces of activated platelets, catalyzes the formation of activated factor X with high efficiency. A substitution of leucine for arginine at residue 384 in FIX (FIX R384L, also know as FIX Padua) is a gain-of-function mutation that resulted in elevated FIX clotting activity in a patient with venous thrombosis (Simioni P et al. 2009).
所含基因
3 个基因