Population-scale Analysis Reveals Germline Loss of SERPING1 (C1-Inhibitor) is a Polyphenotypic Thrombotic Disorder.
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DOI: 10.1182/bloodadvances.2025017220
Abstract: Deficiency in C1 inhibitor (C1INH, SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by loss of C1INH in the general population, we studied genetically-defined C1INH deficiency… read more here.
Keywords: thrombotic disorder; serping1; c1inh; polyphenotypic thrombotic ... See more keywords