Title : Von Willebrand disease type 2B with a novel mutation in the VWF gene.

Pub. Date : 2021 Jan-Feb

PMID : 33550910






1 Functional Relationships(s)
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1 Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. Ristocetin glycoprotein Ib platelet subunit alpha Homo sapiens