Figure 1.
A novel GP1BA variant in a PT-VWD patient. (A) Platelet/plasma mixing studies for VWF binding to platelets induced by ristocetin (1 mg/mL) assessed by flow cytometry. VWF binding was measured in the following mixtures: control platelets/control plasma, control platelets/proband (or PT-VWD) plasma, proband (or PT-VWD) platelets/proband (or PT/VWD) plasma and proband (or PT-VWD) platelets/control plasma. Binding of VWF to platelets is expressed as percent of positive platelets. Data are means ±SEM from 4 independent experiments, * = P < .05 vs control platelets + control plasma; Two-way ANOVA. (B) Sequencing of DNA from the proband, showing the heterozygous c.G380A variant in GP1BA (NM_000173.7) leading to p.Arg127Gln. On the right, close-up of the variant obtained by HOPE. GPIbα is colored gray, the side chains of both the WT and the mutant residue are shown and colored green and red, respectively.

A novel GP1BA variant in a PT-VWD patient. (A) Platelet/plasma mixing studies for VWF binding to platelets induced by ristocetin (1 mg/mL) assessed by flow cytometry. VWF binding was measured in the following mixtures: control platelets/control plasma, control platelets/proband (or PT-VWD) plasma, proband (or PT-VWD) platelets/proband (or PT/VWD) plasma and proband (or PT-VWD) platelets/control plasma. Binding of VWF to platelets is expressed as percent of positive platelets. Data are means ±SEM from 4 independent experiments, * = P < .05 vs control platelets + control plasma; Two-way ANOVA. (B) Sequencing of DNA from the proband, showing the heterozygous c.G380A variant in GP1BA (NM_000173.7) leading to p.Arg127Gln. On the right, close-up of the variant obtained by HOPE. GPIbα is colored gray, the side chains of both the WT and the mutant residue are shown and colored green and red, respectively.

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