PMID: 8870173

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., [PubMed]
Sentences
No. Mutations Sentence Comment
33 ABCC8 p.Arg834Trp
X
ABCC8 p.Arg834Trp 8870173:33:109
status: NEW
view ABCC8 p.Arg834Trp details
 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). Login to comment 86 ABCC8 p.Arg834Trp
X
ABCC8 p.Arg834Trp 8870173:86:56
status: NEW
view ABCC8 p.Arg834Trp details
 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. Login to comment 102 ABCC8 p.Arg834Trp
X
ABCC8 p.Arg834Trp 8870173:102:99
status: NEW
view ABCC8 p.Arg834Trp details
 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. Login to comment