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PO084 | BRIDGING THE CLINICAL CHASM: GENETIC ANALYSIS AS A CONFIRMATORY TOOL IN MISMATCHED GLANZMANN THROMBASTHENIA R. Pastorino1|3, F. Bocchi1|3, A. Valpreda4, G. Murante1|2|3, S. Bergonzi1|2|3, M. Capetta1|2|3, F. Valeri1|2, C. Dainese1|2, M. Gilestro5, D. Peruccio6, E. De Candia7, P. Concolino8, B. Bruno2|3, A. Borchiellini1|2 | 1Regional Centre for Hemorrhagic and Thrombotic Diseases, AOU Città della Salute e della Scienza, Italy; 2Division of Hematology, AOU Città della Salute e della Scienza di Torino, Italy; 3Department of Molecular Biotechnology and Health Sciences, University of Turin, Italy; 4Central Laboratory Baldi and Riberi, AOU Città della Salute e della Scienza di Torino, Torino, Italy; 5AOU Citta' della Salute e della Scienza , PO Molinette, Anatomy and Pathological Histology 1 U, Department of Laboratory Medicine - Flow Cytometry Laboratory, Torino, Italy; 6AOU Citta' della Salute e della Scienza di Torino, Maternal-Infant and Trauma Transfusion Medicine, Regina Margherita Hospital, Department of Laboratory Medicine, Torino, Italy; 7Haemostasis and Thrombosis Unit, Fondazione Policlinico Universitario A.Gemelli, IRCCS, Department of Translational Medicine, Università Cattolica del Sacro Cuore, Roma, Italy; 8Fondazione Policlinico Universitario A. Gemelli, IRCCS, Department of Laboratory and Hematological Sciences, Unit of Clinical Chemistry, Biochemistry and Molecular Biology, UOSD of Molecular and Genomic Diagnostics, Roma, Italy
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PO086 | INHERITED PLATELET GPIV DEFICIENCY: FIRST DESCRIPTION OF TWO PATIENTS WITH BLEEDING DIATHESIS L. Bury1, S. Sorrentino2, E. Falcinelli1, G. Guglielmini1, V. Fazzi1, A. Ferretti2, P. Concolino3|4, F. Cirillo5, P. Gresele1, E. De Candia2|6 | 1Department of Medicine and Surgery, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy; 2Dipartimento di Medicina e Chirurgia Traslazionale, Università Cattolica del Sacro Cuore, Facoltà di Medicina, Roma, Italy; 3Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Gemelli IRCCS, Roma, Italy; 4Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma, Italy; 5Department of Clinical Medicine and Surgery, Federico II University of Naples, Naples, Italy; 6Dipartimento di Scienze di Laboratorio ed Ematologiche, Policlinico Universitario A. Gemelli IRCCS, Roma, Italy. L. Bury first authorship, P. Gresele senior authorship
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CO108 | MECHANOCHEMICAL REPROGRAMMING OF VWF–GPIB INTERACTIONS UNCOUPLES AFFINITY FROM AVIDITY AND LINKS THROMBOCYTOPENIA TO ANGIODYSPLASIA IN TYPE 2B VON WILLEBRAND DISEASE A. Ferretti1, M. Sacco1, S. Lancellotti1, P. Concolino2, A. Minucci2, R. De Cristofaro1|3 | 1Center for Hemorrhagic and Thrombotic Diseases; 2Molecular and Genomic Diagnostics Unit, Fondazione Policl.nico Univ. Gemelli IRCCS, Roma, Italy; 3Department of Translational Medicine and Surgery, Catholic University of the Sacred Heart, Roma, Italy
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