The lesson learned from the new c.2547-1G>T mutation combined with p.R854Q:when a type 2N mutation reveals a quantitative von Willebrand factor defect.
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DOI: 10.1055/a-1777-6881
Abstract: Type 2N is a rare von Willebrand disease (VWD) variant involving an impairment in the FVIII carrier function of von Willebrand factor (VWF). It has a phenotype that mimics hemophilia A, and FVIII binding to… read more here.
Keywords: fviii; vwf; von willebrand; vwf fviiib ... See more keywords