The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients
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DOI: 10.1111/hae.14494
Abstract: von Willebrand factor propeptide (VWFpp) plays an important role in VWF multimerization and storage. VWFpp mutations have been previously associated with types 1, 3 and 2A/IIC von Willebrand disease (VWD). read more here.
Keywords: willebrand factor; willebrand; factor propeptide; von willebrand ... See more keywords