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Article

Disease-modifying factors in hereditary angioedema: an RNA expression-based screening.

Orphanet journal of rare diseases - 20 May 2013

López-Lera Alberto, Cabo Fátima Sánchez, Garrido Sofía, Dopazo Ana, López-Trascasa Margarita

Abstract excerpt

BACKGROUND: Hereditary Angioedema due to C1-Inhibitor deficiency (HAE types I and II) is a monogenic disease characterized by sudden, self-limited episodes of cutaneous and mucosal swelling due to local deregulation of vascular permeability. Despite its monogenic pattern of inheritance, HAE exhibits great clinical variability and low genotype/phenotype correlation among those affected, which ultimately hinders...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23688356
DOI: 10.1186/1750-1172-8-77
PMCID: PMC3671971

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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