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Article

Mutations analysis of C1 inhibitor coding sequence gene among Portuguese patients with hereditary angioedema.

Molecular immunology - 1 Apr 2013

Martinho A, Mendes J, Simões O, Nunes R, Gomes J, Dias Castro E, Leiria-Pinto P, Ferreira M B, Pereira C, Castel-Branco M G, Pais L

Abstract excerpt

Mutations that modify the amino acid sequence of C1-INH (except Val458Met) are associated with HAE. More than 200 different mutations scattering the entire C1-INH gene have been reported. The main objective of this study was to report the mutational findings in a HAE cohort of 138 Portuguese patients followed in specialized consultation all over the country. DNA was extracted from peripheral blood with...

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Source

Identifiers

PMID: 23123409
DOI: 10.1016/j.molimm.2012.09.003

Genes

SERPING1

Variants

Provenance

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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