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Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.
Gindele R, Oláh Z, Ilonczai P, Speker M, Udvari Á, Selmeczi A, Pfliegler G, Marján E, Kovács B, Boda Z, Muszbek L, Bereczky Z. Gindele R, et al. Among authors: marjan e. J Thromb Haemost. 2016 Apr;14(4):704-15. doi: 10.1111/jth.13252. Epub 2016 Feb 16. J Thromb Haemost. 2016. PMID: 26748602 Free article.
Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.
Gindele R, Selmeczi A, Oláh Z, Ilonczai P, Pfliegler G, Marján E, Nemes L, Nagy Á, Losonczy H, Mitic G, Kovac M, Balogh G, Komáromi I, Schlammadinger Á, Rázsó K, Boda Z, Muszbek L, Bereczky Z. Gindele R, et al. Among authors: marjan e. Thromb Res. 2017 Dec;160:119-128. doi: 10.1016/j.thromres.2017.10.023. Epub 2017 Oct 31. Thromb Res. 2017. PMID: 29153735