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Article

Novel duplication in the F12 gene in a patient with recurrent angioedema.

Clinical immunology (Orlando, Fla.) - 1 Oct 2013

Kiss Nóra, Barabás Eszter, Várnai Katalin, Halász Adrien, Varga Lilian Ágnes, Prohászka Zoltán, Farkas Henriette, Szilágyi Ágnes

Abstract excerpt

Edema formation is mediated by histamine or bradykinin release and may have several hereditary and acquired causes. In hereditary forms of bradykinin-mediated angioedemas, mutations in the genes encoding C1-inhibitor (SERPING1) as well as coagulation factor XII (F12) have been described. We present a novel F12 gene mutation, a duplication of 18 base pairs (c.892_909dup) in a 37-year-old woman with recurrent...

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Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23994767
DOI: 10.1016/j.clim.2013.08.001

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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