The molecular genetics of von Willebrand disease.

"CONCLUSION: ConclusionvWD is an inherited bleeding disorder with a complexmolecular pathology. Although numerous studies invarious geographic regions have considerably advancedour understanding of the molecular mechanism of vWD,cases of vWD not associated with vWF gene defects arestill observed. Complete understanding of the molecularpathogenesis of vWD requires additional in vitro expressionstudies that observe the effects of the candidatevWF gene mutations. In addition, use of whole genomeor exome (part of genome formed by exons) sequencing(novel technologies) might identify other genetic determinantsof vWD and help to complete our understanding ofvWD by demonstrating the genotype-phenotype relationship.: Conflict of Interest Statement: The authors of this paper have no conflicts of interest,including specific financial interests, relationships, and/or affiliations relevant to the subject matter or materialsincluded."