Article
Antithrombin Debrecen (p.Leu205Pro) - Clinical and molecular characterization of a novel mutation associated with severe thrombotic tendency.
Thrombosis research - 1 Oct 2017
Selmeczi Anna, Gindele Réka, Ilonczai Péter, Fekete Attila, Komáromi István, Schlammadinger Ágota, Rázsó Katalin, Kovács Kitti B, Bárdos Helga, Ádány Róza, Muszbek László, Bereczky Zsuzsanna, Boda Zoltán, Oláh Zsolt
Abstract excerpt
INTRODUCTION: Hereditary antithrombin (AT) deficiency is a rare thrombophilic disorder with heterogeneous genetic background and various clinical presentations. In this study we identified a novel AT mutation. Genotype-phenotype correlations, molecular characteristics and thrombotic manifestations of the mutation were investigated. MATERIALS AND METHODS: Thirty-one members of a single family were included....
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