[HTML][HTML] Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw–Schulman syndrome)
A Veyradier, JM Lavergne, AS Ribba, B Obert… - Journal of Thrombosis …, 2004 - Elsevier
ADAMTS13, the specific von Willebrand factor (VWF)‐cleaving metalloprotease, prevents
the spontaneous formation of platelet thrombi in the microcirculation by degrading the highly
adhesive ultralarge VWF multimers into smaller forms. ADAMTS13 severe enzymatic
deficiency and mutations have been described in the congenital thrombotic
thrombocytopenic purpura (TTP or Upshaw–Schulman syndrome), a rare and severe
disease related to multivisceral microvascular thrombosis. We investigated six French …
the spontaneous formation of platelet thrombi in the microcirculation by degrading the highly
adhesive ultralarge VWF multimers into smaller forms. ADAMTS13 severe enzymatic
deficiency and mutations have been described in the congenital thrombotic
thrombocytopenic purpura (TTP or Upshaw–Schulman syndrome), a rare and severe
disease related to multivisceral microvascular thrombosis. We investigated six French …
