Article
Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura.
Blood - 19 Nov 2009
Feys Hendrik B, Pareyn Inge, Vancraenenbroeck Renee, De Maeyer Marc, Deckmyn Hans, Van Geet Chris, Vanhoorelbeke Karen
Abstract excerpt
Hereditary thrombotic thrombocytopenic purpura is caused by mutations in a disintegrin and metalloprotease with thrombospondin motifs (ADAMTS13) resulting in defective processing of von Willebrand factor (VWF) that causes intravascular platelet aggregation culminating in thrombocytopenia with shi...
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