ABCC8 p.Arg834Trp
| Predicted by SNAP2: | A: D (85%), C: D (75%), D: D (95%), E: D (91%), F: D (91%), G: D (85%), H: D (80%), I: D (85%), K: N (97%), L: D (85%), M: D (80%), N: D (80%), P: D (91%), Q: D (71%), S: D (80%), T: D (80%), V: D (85%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Interest of a simple and fast method for platelet ... Thromb Res. 1996 Aug 15;83(4):287-98. de Romeuf C, Mazurier C
Interest of a simple and fast method for platelet von Willebrand factor characterization.
Thromb Res. 1996 Aug 15;83(4):287-98., [PMID:8870173]
Abstract [show]
Quantitative or qualitative assay of platelet von Willebrand factor (vWF) is required for the classification of patients suffering from von Willebrand disease (vWD). The major interest of this classification is the administration of specific and appropriate treatment to each category of vWD patients. However, because platelet lysate is prepared from washed platelets, the analysis of platelet vWF is not performed in routine. To overcome this problem, platelet lysates were prepared either with a new method which does not require washing procedure or with the established protocol, then respective platelet vWF characteristics were compared. Our data show that the two methods provide comparable information required for the characterization of types 1 and 2 vWD patients. With this new procedure, complete phenotypic data including the characteristics of platelet vWF can be obtained from most of the vWD patients.
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No. Sentence Comment
33 All type 2A vWD patients belong to group 2 of the former subtype 11A as they harbor the same point mutation, R834W, assumed to induce an increased sensitivity to proteolysis (14).
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ABCC8 p.Arg834Trp 8870173:33:109
status: NEW86 Although these patients harbor the same point mutation (R834W), after 1 day at -20°C platelet vWF A or B appear more affected in patient 10 than in patients 11 or 12, whereas the highest ratios vWF:CBA/vWF:Ag were obtained with platelet vWF B pellet.
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ABCC8 p.Arg834Trp 8870173:86:56
status: NEW102 In the type 2A vWD patients studied (former subtype 11A), all affected by the same point mutation (R834W), our data suggest that platelet vWF is synthesized with a full range of multimers but that subsequent degradation, due to the presence of proteases in platelet lysate Vol. No.4 obtained with method A or B, occurs after platelet lysis.
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ABCC8 p.Arg834Trp 8870173:102:99
status: NEW