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Article

Hereditary angioedema in Greek families caused by novel and recurrent mutations.

Human immunology - 1 Nov 2009

Speletas Matthaios, Boukas Konstantinos, Papadopoulou-Alataki Efimia, Tsitsami Elena, Germenis Anastasios E

Abstract excerpt

This study constitutes the first molecular analysis of hereditary angioedema (HAE) in Greece, where 11 patients from three unrelated families with recurrent angioedema attacks and decreased C1 inhibitor antigenic levels were analyzed for SERPING1 mutations. Interestingly, one family displayed a novel SERPING1 alteration, characterized by the substitution of two consecutive nucleotides TC to AA, resulting in a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Complement C1 Inactivator Proteins

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Source

Identifiers

PMID: 19706314
DOI: 10.1016/j.humimm.2009.08.010

Genes

SERPING1

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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