Article
Antithrombin Glasgow II: alanine 382 to threonine mutation in the serpin P12 position, resulting in a substrate reaction with thrombin.
British journal of haematology - 1 Sept 1991
Ireland H, Lane D A, Thompson E, Walker I D, Blench I, Morris H R, Freyssinet J M, Grunebaum L, Olds R, Thein S L
Abstract excerpt
A female with recurrent thrombosis was found to have a functional abnormality of antithrombin, with a ratio of functional to immunological activity in plasma of approximately 50%. Crossed immunoelectrophoresis in the presence of heparin was normal, indicating an abnormality of the reactive site,...
Topics
- Adult
- Alanine
- Antithrombin III
- Electrophoresis, Polyacrylamide Gel
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Polymerase Chain Reaction
- Recurrence
- Serpins
- Threonine
- Thrombin
- Thrombosis