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Article

HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene.

Human mutation - 1 Jan 2005

Kalmár Lajos, Hegedüs Tamás, Farkas Henriette, Nagy Melinda, Tordai Attila

Abstract excerpt

Hereditary angioneurotic edema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous and submucosal edema and is caused by the deficiency of the activated C1 esterase inhibitor protein (C1-INH or C1INH; approved gene symbol SERPING1). Published C1-INH mutations are...

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Source

Identifiers

PMID: 15580551
DOI: 10.1002/humu.20112

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15580551-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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