The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients.
Maria Teresa PagliariLuciano BaroncianiChiara CordiglieriPaola ColpaniGiovanna CozziSiboni Simona MariaFlora PeyvandiPublished in: Haemophilia : the official journal of the World Federation of Hemophilia (2022)
The novel p.Thr274Pro mutation has a dominant effect and it is responsible of patients' type 1 VWD phenotype through a combined mechanism of reduced synthesis, impaired secretion and multimerization.