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- W2065156906 endingPage "74" @default.
- W2065156906 startingPage "59" @default.
- W2065156906 abstract "Antithrombin is the major proteinase inhibitor of thrombin and other blood coagulation proteinases. Antithrombin has two functional domains, a heparin binding site and a reactive centre (that complexes and inactivates the proteinase). Its deficiency results in an increased risk of venous thromboembolism. Appreciable progress has been made in recent years in understanding the structure and function of this protein, the genetic cause of inherited deficiency and its clinical consequence. The structure of antithrombin is now considered in terms of the models derived from X-ray crystallography, which have provided explanations for the function of its heparin interaction site and of its reactive loop. The structural organization of the antithrombin gene has been defined and numerous mutations have been identifed that are responsible for antithrombin deficiency: these may reduce the level of the protein (Type I deficiency), alter the function of the protein (Type II deficiency, altering heparin binding or reactive sites), or even have multiple or ‘pleiotropic effects’ (Type II deficiency, altering both functional domains and the level of protein)." @default.
- W2065156906 created "2016-06-24" @default.
- W2065156906 creator A5003610278 @default.
- W2065156906 creator A5064362781 @default.
- W2065156906 creator A5068466237 @default.
- W2065156906 creator A5080911744 @default.
- W2065156906 date "1996-06-01" @default.
- W2065156906 modified "2023-10-10" @default.
- W2065156906 title "Molecular genetics of antithrombin deficiency" @default.
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