The homozygous p.C1024R-ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan
- 1 January 2012
- journal article
- Published by Georg Thieme Verlag KG in Thrombosis and Haemostasis
- Vol. 107 (05) , 1003-1005
Abstract
No abstract availableFunding Information
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Labor, and Welfare of Japan
This publication has 11 references indexed in Scilit:
- Natural history of Upshaw–Schulman syndrome based on ADAMTS13 gene analysis in JapanJournal of Thrombosis and Haemostasis, 2011
- Pathophysiology of thrombotic thrombocytopenic purpuraInternational Journal of Hematology, 2010
- Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpuraJournal of Thrombosis and Haemostasis, 2008
- Plasma Levels of ADAMTS13 Antigen Determined with an Enzyme Immunoassay Using a Neutralizing Monoclonal Antibody Parallel ADAMTS13 Activity LevElsInternational Journal of Hematology, 2007
- Quantitative Western blot analysis of plasma ADAMTS13 antigen in patients with Upshaw-Schulman syndromeThrombosis Research, 2007
- Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)Thrombosis and Haemostasis, 2007
- Novel monoclonal antibody‐based enzyme immunoassay for determining plasma levels of ADAMTS13 activityTransfusion, 2006
- Novel ADAMTS‐13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpuraJournal of Thrombosis and Haemostasis, 2006
- von Willebrand Factor—Cleaving Protease and Upshaw-Schulman SyndromeInternational Journal of Hematology, 2002
- Aetiology and pathogenesis of thrombotic thrombocytopenic purpura and haemolytic uraemic syndrome: the role of von Willebrand factor-cleaving proteaseBest Practice & Research Clinical Haematology, 2001