Founder effect is responsible for the p.Leu131Phe heparin‐binding‐site antithrombin mutation common in Hungary: phenotype analysis in a large cohort

Essentials Antithrombin Budapest3 (ATBp3; p.Leu131Phe) causing heparin‐binding‐site defect is common. We studied the clinical and laboratory phenotype of a large Hungarian ATBp3 cohort (n = 102). Founder effect of ATBp3 was confirmed by 12 genetic markers; anti‐FXa AT assay was 100% sensitive. The s...

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Veröffentlicht in:	Journal of thrombosis and haemostasis 2016-04, Vol.14 (4), p.704-715
Hauptverfasser:	Gindele, R., Oláh, Z., Ilonczai, P., Speker, M., Udvari, Á., Selmeczi, A., Pfliegler, G., Marján, E., Kovács, B., Boda, Z., Muszbek, L., Bereczky, Z.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged antithrombin III antithrombin III deficiency Antithrombins - chemistry Arteries - physiopathology Binding Sites Child Child, Preschool Cohort Studies Factor Xa - genetics Female Founder Effect Genetic Association Studies Heparin - genetics Heterozygote Humans Hungary Leucine - genetics Microsatellite Repeats Middle Aged Mutation Phenotype Phenylalanine - genetics Polymorphism, Single Nucleotide Pregnancy Pregnancy Complications, Cardiovascular Sensitivity and Specificity thrombophilia Thrombosis - physiopathology venous thromboembolism Young Adult
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