Article
Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
Journal of thrombosis and haemostasis : JTH - 1 Apr 2016
Gindele R, Oláh Z, Ilonczai P, Speker M, Udvari Á, Selmeczi A, Pfliegler G, Marján E, Kovács B, Boda Z, Muszbek L, Bereczky Z
Abstract excerpt
BACKGROUND: Antithrombin (AT) is a key regulator of the coagulation. In type II deficiency, the heparin-binding-site defect (type II HBS) is considered to be relatively low thrombosis risk. OBJECTIVES: Our aims were to search for SERPINC1 mutation(s) and to describe the clinical and laboratory phenotype of a large number of AT Budapest3 (ATBp3, p.Leu131Phe) carriers and confirm the presence of a founder effect....
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