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Article

Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.

Cytogenetic and genome research - 1 Jan 2008

Gösswein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Bork K, Oldenburg J, Müller C R

Abstract excerpt

Hereditary angioedema (HAE) is an autosomal dominant disease that manifests as intermittent acute swellings of the skin and mucosal surfaces, which, in the gastrointestinal tract and larynx, may even be fatal. HAE results from functional deficiency of the C1 inhibitor (C1INH) protein, which plays...

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Share to Angioedemas, Hereditary
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Complement C1 Inhibitor Protein

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Source

Identifiers

PMID: 18758157
DOI: 10.1159/000138883

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18758157-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema.PMID 18758157Read ↗

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