ABCC8 p.Arg834Trp
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PMID: 8870173
[PubMed]
de Romeuf C et al: "Interest of a simple and fast method for platelet von Willebrand factor characterization."
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