Article
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura.
Journal of thrombosis and haemostasis : JTH - 1 Feb 2008
Camilleri R S, Cohen H, Mackie I J, Scully M, Starke R D, Crawley J T B, Lane D A, Machin S J
Abstract excerpt
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is most commonly associated with deficiency or inhibition of von Willebrand factor-cleaving protease (ADAMTS-13) activity. ADAMTS-13 mutations and polymorphisms have been reported in childhood congenital TTP, but their significance in adult onset TTP remains unclear. OBJECTIVES: We sought to identify common ADAMTS-13 mutations in adults with late onset TTP and...
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