Article
Thr90Ser Mutation in Antithrombin is Associated with Recurrent Thrombosis in a Heterozygous Carrier.
Thrombosis and haemostasis - 1 Jul 2020
Lu Yeling, Villoutreix Bruno O, Biswas Indranil, Ding Qiulan, Wang Xuefeng, Rezaie Alireza R
Abstract excerpt
Antithrombin (AT) is a serine protease inhibitor that regulates the activity of coagulation proteases of both intrinsic and extrinsic pathways. We identified an AT-deficient patient with a heterozygous Thr90Ser (T90S) mutation who experiences recurrent venous thrombosis. To understand the molecular basis of the clotting defect, we expressed AT-T90S in mammalian cells, purified it to homogeneity, and characterized...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
