[HTML][HTML] Deletion of P1 arginine in a novel antithrombin variant (antithrombin London) abolishes inhibitory activity but enhances heparin affinity and is associated with …
SM Raja, N Chhablani, R Swanson… - Journal of Biological …, 2003 - ASBMB
A novel variant of antithrombin, the major serpin inhibitor of coagulation proteases, has been
identified in a patient with early onset thrombosis and abnormal plasma antithrombin activity.
Sequencing of the antithrombin genes of the patient revealed that one of the two alleles was
abnormal due to an in-frame deletion of the codon for the P1 arginine residue. The abnormal
antithrombin was separated from the normal inhibitor by complexing the latter with thrombin
followed by heparin-agarose affinity chromatography. The purified variant, antithrombin …
identified in a patient with early onset thrombosis and abnormal plasma antithrombin activity.
Sequencing of the antithrombin genes of the patient revealed that one of the two alleles was
abnormal due to an in-frame deletion of the codon for the P1 arginine residue. The abnormal
antithrombin was separated from the normal inhibitor by complexing the latter with thrombin
followed by heparin-agarose affinity chromatography. The purified variant, antithrombin …