Table 1. Summary of mutation and phenotype characteristics of the patients.
IP, Index patient; VWD, von Willebrand disease; VWF, von Willebrand factor; VWF:Ag, VWF antigen; VWF:RCo, Ristocetin cofactor activity; FVIII:C, factor VIII coagulant activity. Variants with underline indicate the VWF propeptide variants studied here.* For IP-3, instead of VWF:RCo, VWF binding to platelet GPIb (VWF:GPIb) is reported.
The VWF DNA and protein reference sequences are RefSeq NM_000552.4 and NP_000543.2, respectively.