Molecular genetic testing in von Willebrand disease: past, present, and beyond.

Abstract excerpt

The gene for von Willebrand factor (VWF) was among the earliest genomic discoveries in the mid-1980s. It became feasible to use this new knowledge to better understand the genetic mechanisms responsible for von Willebrand disease (VWD) and to utilize the information to generate molecular genetic diagnostic testing strategies. Following initial studies demonstrating large structural variants in type 3 VWD...

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