[HTML][HTML] Mutations in the shutter region of antithrombin result in formation of disulfide‐linked dimers and severe venous thrombosis
Background: Missense mutations causing conformational alterations in serpins can be
responsible for protein deficiency associated with human diseases. However, there are few
data about conformational consequences of mutations affecting antithrombin, the main
hemostatic serpin. Objectives: To investigate the conformational and clinical effect of
mutations affecting the shutter region of antithrombin. Patients and methods: We identified
two families with significant reduction of circulating antithrombin displaying early and severe …
responsible for protein deficiency associated with human diseases. However, there are few
data about conformational consequences of mutations affecting antithrombin, the main
hemostatic serpin. Objectives: To investigate the conformational and clinical effect of
mutations affecting the shutter region of antithrombin. Patients and methods: We identified
two families with significant reduction of circulating antithrombin displaying early and severe …