Upshaw–Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-021-04047-2.pdf
Reference10 articles.
1. George JN. Clinical practice. Thrombotic thrombocytopenic purpura. N Engl J Med. 2006;354:1927–35.
2. Bianchi V, Robles R, Alberio L, Furlan M, Lämmle B. Von Willebrand factor–cleaving protease (ADAMTS13) in thrombocytopenic disorders: a severely deficient activity is specific for thrombotic thrombocytopenic purpura. Blood. 2002;100:710–3.
3. Levy GG, Nichols WC, Lian EC, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488–94.
4. Veyradier A, Meyer D. Thrombotic thrombocytopenic purpura and its diagnosis. J Thromb Haemost. 2005;3:2420–7.
5. Uemura M, Tatsumi K, Matsumoto M, et al. Localization of ADAMTS13 to the stellate cells of human Liver. Blood. 2005;106:922–4.
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