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von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Remuzzi G, Galbusera M, Noris M, Canciani MT, Daina E, Bresin E, Contaretti S, Caprioli J, Gamba S, Ruggenenti P, Perico N, Mannucci PM; Italian Registry of Recurrent and Familial HUS/TTP. Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome. Remuzzi G, et al. Blood. 2002 Aug 1;100(3):778-85. doi: 10.1182/blood-2001-12-0166. Blood. 2002. PMID: 12130486 Free article.
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.
Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP. Caprioli J, et al. Among authors: remuzzi g. Hum Mol Genet. 2003 Dec 15;12(24):3385-95. doi: 10.1093/hmg/ddg363. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583443
Familial haemolytic uraemic syndrome and an MCP mutation.
Noris M, Brioschi S, Caprioli J, Todeschini M, Bresin E, Porrati F, Gamba S, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP. Noris M, et al. Among authors: remuzzi g. Lancet. 2003 Nov 8;362(9395):1542-7. doi: 10.1016/S0140-6736(03)14742-3. Lancet. 2003. PMID: 14615110
1,535 results