Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.
Marie-Daniéla DuboisIvan PeyronOlivier-Nicolas Pierre-LouisSerge Pierre-LouisJohalène RaboutPierre BoisseauAnnika de JongSophie SusenJenny GoudemandRémi NevierePascal FuseauOlivier D ChristophePeter J LentingCecile V DenisCaterina CasariPublished in: Research and practice in thrombosis and haemostasis (2022)
We report two mutations of the D4 domains that induced combined qualitative and quantitative defects.