Article
Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.
Thrombosis and haemostasis - 1 Sept 2002
Mushunje Alec, Zhou Aiwu, Huntington James A, Conard Jacqueline, Carrell Robin W
Abstract excerpt
Here we report the finding of a new natural antithrombin mutation that confirms the critical contribution of lysine 114 to the binding of the core heparin pentasaccharide, with the replacement of lysine 114 by glutamate causing a complete loss in affinity. The variant was identified in a father and son, the father having been investigated for an episode of cerebral ischaemia associated with hypercholesterolaemia....
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