THE MOLECULAR GENETICS OF ANTITHROMBIN DEFICIENCY
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2141.1994.tb04902.x/fullpdf
Reference59 articles.
1. A hinge region mutation in C1-inhibitor (Ala436–>Thr) results in nonsubstrate-like behavior and in polymerization of the molecule.
2. Antithrombin-III-Hamilton, Ala 382 to Thr: an antithrombin-III variant that acts as a substrate but not an inhibitor of alpha-thrombin and factor Xa
3. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
4. Molecular basis of inherited human antithrombin deficiency
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