The search for the underlying mutations causing VWD in 13 Venezuelan families

Von Willebrand disease (VWD) is the most common inherited bleeding disorder due to quantitative or qualitative deficiencies of von Willebrand factor (VWF). Six main types of VWD have been described [1]. Relative quantitative deficiencies of functionally normal VWF (VWF levels 0.7) correspond to type 1 (OMIM ID #193400) with dominant inheritance, or complete deficiency to severe VWD type 3 (OMIM ID #277480), with recessive inheritance (VWF:Ag 

Source: Thrombosis Research - January 31, 2024 Category: Hematology Authors: Rita Marchi, Tobias Obser, Florian Oyen, Arlette Ruiz-S áez, Apsara Boadas, Marion Echenagucia, Sonja Schneppenheim, Ulrich Budde, Reinhard Schneppenheim Tags: Letter to the Editors-in-Chief Source Type: research