Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

• Anna Weronska,
• Belen de la Morena-Barrio,
• Sarah Goldman-Mazur,
• Maria Eugenia de la Morena-Barrio,
• José Padilla,
• Antonia Miñano,
• Pedro Garrido,
• Jacek Treliński,
• Daniel Piotr Potaczek,
• Anita Szczepanek,
• Anetta Undas,
• Javier Corral,
• Ewa Wypasek

Affiliations

Anna Weronska

Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Kraków, Poland

Belen de la Morena-Barrio

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

Sarah Goldman-Mazur

Department of Hematology, Cellular Therapy and Hemostaseology, Leipzig University Hospital, Leipzig, Germany

Maria Eugenia de la Morena-Barrio

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

José Padilla

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

Antonia Miñano

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

Pedro Garrido

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

Jacek Treliński

Department of Hemostasis Disorders, Medical University of Lodz, Łódź, Poland

Daniel Piotr Potaczek

Translational Inflammation Research Division and Core Facility for Single Cell Multiomics, Medical Faculty, Philipps University of Marburg, Marburg, Germany; Center for Infection and Genomics of the Lung (CIGL), Universities of Gießen and Marburg Lung Center (UGMLC), Gießen, Germany; Bioscientia MVZ Labor Mittelhessen GmbH, Gießen, Germany

Anita Szczepanek

Institute of Archaeology and Ethnology, Polish Academy of Sciencies, Kraków, Poland; Department of Anatomy, Jagiellonian University Medical College, Kraków, Poland

Anetta Undas

Institute of Cardiology, Jagiellonian University Medical College, Kraków, Poland; John Paul II Hospital, Kraków, Poland

Javier Corral

Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain

Ewa Wypasek

Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Krakow University, Kraków, Poland; John Paul II Hospital, Kraków, Poland