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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: speker m. 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.
Age and Origin of the Founder Antithrombin Budapest 3 (p.Leu131Phe) Mutation; Its High Prevalence in the Roma Population and Its Association With Cardiovascular Diseases.
Bereczky Z, Gindele R, Fiatal S, Speker M, Miklós T, Balogh L, Mezei Z, Szabó Z, Ádány R. Bereczky Z, et al. Among authors: speker m. Front Cardiovasc Med. 2021 Feb 5;7:617711. doi: 10.3389/fcvm.2020.617711. eCollection 2020. Front Cardiovasc Med. 2021. PMID: 33614741 Free PMC article.
High penetrance of inferior vena cava system atresia in severe thrombophilia caused by homozygous antithrombin Budapest 3 variant: Description of a new syndrome.
de la Morena-Barrio ME, Gindele R, Bravo-Pérez C, Ilonczai P, Zuazu I, Speker M, Oláh Z, Rodríguez-Sevilla JJ, Entrena L, Infante MS, de la Morena-Barrio B, García JM, Schlammadinger Á, Cifuentes-Riquelme R, Mora-Casado A, Miñano A, Padilla J, Vicente V, Corral J, Bereczky Z. de la Morena-Barrio ME, et al. Among authors: speker m. Am J Hematol. 2021 Nov 1;96(11):1363-1373. doi: 10.1002/ajh.26304. Epub 2021 Aug 12. Am J Hematol. 2021. PMID: 34324211 Free article.