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Article

New mutations in C1 esterase inhibitor (SERPING1) in a German family with hereditary angioedema.

The Egyptian journal of immunology - 1 Jan 2008

El-Meguid Aly M A, Aslanidis Charalampos, Schimanski Seven, Schambeck Christian, Schmitz Gerd

Abstract excerpt

Hereditary angioedema (HAE) is a genetically dominant clinical disorder characterized by recurrent, acute oedema of the skin or mucosa, usually involving the extremities, face, larynx and gastrointestinal tract. C1 inhibitor (C1inh) deficiency is linked to the development of HAE, either by decrease of its plasma level or presence of a dysfunctional protein. The purpose of this study was to identify the genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20306692

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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