A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy
Author:
Publisher
Georg Thieme Verlag KG
Subject
Hematology
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1160/TH11-11-0783.pdf
Reference30 articles.
1. Moake JL, et al. Unusually large plasma factor VIII:von Willebrand factor multimers in chronic relapsing thrombotic thrombocytopenic purpura. N Engl J Med 1982; 307: 1432--1435
2. Partial purification and characterization of a protease from human plasma cleaving von Willebrand factor to fragments produced by in vivo proteolysis
3. Physiologic cleavage of von Willebrand factor by a plasma protease is dependent on its conformation and requires calcium ion
4. Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor.
5. Cloning, expression, and functional characterization of the von Willebrand factor–cleaving protease (ADAMTS13)
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1. From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease;Seminars in Thrombosis and Hemostasis;2022-11-11
2. Hereditary Deficiency of ADAMTS13 Activity: Upshaw–Schulman Syndrome;ADAMTS13;2015
3. Multiplein silicotools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura;British Journal of Haematology;2013-01-24
4. Pregnancy in Upshaw-Schulman syndrome;Hämostaseologie;2013
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