Inherited thrombotic thrombocytopenic purpura
- PMID: 19181790
- PMCID: PMC2635388
- DOI: 10.3324/haematol.2008.002493
Inherited thrombotic thrombocytopenic purpura
Abstract
Thrombotic thrombocytopenic purpura is due to germline mutations of the ADAMTS13 gene in about one fifth of patients. In this perspective article Dr. Galbusera and colleagues examine the pathophysiology of this inherited condition. See related article on page 289.
Comment on
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The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura.Haematologica. 2009 Feb;94(2):289-93. doi: 10.3324/haematol.13524. Epub 2008 Dec 30. Haematologica. 2009. PMID: 19116307 Free PMC article.
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