VWF 变体与 I 型胶原结合缺陷
中文名称
通路描述
血管损伤后，循环 VWF 与暴露的血管胶原结合。该事件显示了由 VWF A3 域功能丧失突变引起的 VWF 与 I 型胶原结合缺陷，这些突变存在于 VWD 2M 型患者中，其特征是血小板粘附/胶原结合缺陷和/或 VWF 多聚体分布正常或低于正常。
英文描述
Defective VWF binding to collagen type I Upon vascular injury, circulating von Willebrand factor (VWF) binds to exposed vascular collagen. This Reactome event shows defective binding of VWF to collagen type I caused by loss-of-function mutations in the A3 domain of VWF found in patients with von Willebrand disease (VWD) type 2M, which is characterized by defects in platelet adhesion and/or collagen binding with normal or subnormal VWF multimer distribution.
所含基因
2 个基因