Figure 2.
VWF levels for each variant. (A) Plasma samples with <50% VWF:Rco were considered diagnostic for VWD. Two of 6 samples were nonsense variants, and the remaining were missense variants. Of the 4 missense variants, 3 showed amino acid substitution to cysteine. Two missense variants, p.Asp400His and p.Arg1943Cys, were novel. (B) VWF levels for missense variants in plasma samples obtained from 3 different individuals. VWF levels were different in different plasma samples, even for those with the same variant. (C) VWF levels for nonsense variants. We identified a number of cases with nonsense variants who did not have low VWF levels. Even for those with the same variant, VWF levels varied widely from sample to sample. For cases with VWF:Rco of >200% and VWF:Ag of >220%, their values were entered as 200% and 220%, respectively.

VWF levels for each variant. (A) Plasma samples with <50% VWF:Rco were considered diagnostic for VWD. Two of 6 samples were nonsense variants, and the remaining were missense variants. Of the 4 missense variants, 3 showed amino acid substitution to cysteine. Two missense variants, p.Asp400His and p.Arg1943Cys, were novel. (B) VWF levels for missense variants in plasma samples obtained from 3 different individuals. VWF levels were different in different plasma samples, even for those with the same variant. (C) VWF levels for nonsense variants. We identified a number of cases with nonsense variants who did not have low VWF levels. Even for those with the same variant, VWF levels varied widely from sample to sample. For cases with VWF:Rco of >200% and VWF:Ag of >220%, their values were entered as 200% and 220%, respectively.

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