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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

Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy
Department of Haematology, Coagulation Unit, Skaane University Hospital, Lund, Sweden
Department of Haematology, Rigshospitalet, Copenhagen University Hospital, Denmark
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy
French National Reference Centre for Platelet Disorders, Hopital Xavier Arnozan, 33600 Pessac, France
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Italy
Vol. 103 No. 6 (2018): June, 2018 https://doi.org/10.3324/haematol.2017.180927