A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

• Loredana Bury,
• Eva Zetterberg,
• Eva B. Leinøe,
• Emanuela Falcinelli,
• Alessandro Marturano,
• Giorgia Manni,
• Alan T. Nurden,
• Paolo Gresele

Affiliations

Loredana Bury

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy

Eva Zetterberg

Department of Haematology, Coagulation Unit, Skaane University Hospital, Lund, Sweden

Eva B. Leinøe

Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Denmark

Emanuela Falcinelli

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy

Alessandro Marturano

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy

Giorgia Manni

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy

Alan T. Nurden

French National Reference Centre for Platelet Disorders, Hopital Xavier Arnozan, 33600 Pessac, France

Paolo Gresele

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy