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von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients |
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| Authors: | M. T. Pagliari F. Stufano I. Garcia‐Oya G. Cozzi F. Franchi F. Peyvandi |
| Affiliation: | 1. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, ItalyThese authors contributed equally to this study.;2. Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione Luigi Villa, Milan, Italy;3. Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy |
| Abstract: | |
| Keywords: | in vitro expression studies missense mutation platelet glycoprotein Ibα von Willebrand disease von Willebrand factor VWF gene mutations |