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Article

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.

American journal of human genetics - 1 Dec 2006

Cichon Sven, Martin Ludovic, Hennies Hans Christian, Müller Felicitas, Van Driessche Karen, Karpushova Anna, Stevens Wim, Colombo Roberto, Renné Thomas, Drouet Christian, Bork Konrad, Nöthen Markus M

Abstract excerpt

Hereditary angioedema (HAE) is characterized clinically by recurrent acute skin swelling, abdominal pain, and potentially life-threatening laryngeal edema. Three forms of HAE have been described. The classic forms, HAE types I and II, occur as a consequence of mutations in the C1-inhibitor gene. In contrast to HAE types I and II, HAE type III has been observed exclusively in women, where it appears to be...

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PMID: 17186468
DOI: 10.1086/509899
PMCID: PMC1698720

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

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Related research

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Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.PMID 17186468Read ↗

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Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.Semantic proximity Read ↗

Characterization of patients with angioedema without wheals: the importance of F12 gene screening.Semantic proximity Read ↗

Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema.Semantic proximity Read ↗

A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.Semantic proximity Read ↗

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.Semantic proximity Read ↗

Hereditary angioedema with F12 mutation: factors modifying the clinical phenotype.Semantic proximity Read ↗

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In Silico Analysis and In-depth Assessment of a Female Patient with a Missense Mutation in the F12 Gene Associated with Hereditary Angioedema Symptoms: A Case StudySemantic proximity Read ↗

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