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Article

Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG - 1 Mar 2020

Bork Konrad, Zibat Arne, Ferrari David M, Wollnik Bernd, Schön Michael P, Wulff Karin, Lippert Undine

Abstract excerpt

BACKGROUND: Hereditary angioedema (HAE) is a group of genetic diseases characterized by recurrent, painful and potentially lethal tissue swelling. The most common form results from mutations in the SERPING1 gene, leading to reduced function of complement 1 inhibitor (C1-INH). Rarer forms with normal C1-INH may arise from mutations in the coagulation factor F12 gene, but mostly the genetic background is unknown....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32065705
DOI: 10.1111/ddg.14036

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Hereditary angioedema in a single family with specific mutations in both plasminogen and SERPING1 genes.PMID 32065705Read ↗

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