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Article

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.

Biological chemistry - 1 Apr 2016

Cagini Nathália, Veronez C L, Constantino-Silva R N, Buzolin Márcia, Martin Renan Paulo, Grumach A S, Velloso Lício Augusto, Mansour Eli, Pesquero João Bosco

Abstract excerpt

Hereditary Angioedema is an autosomal dominant inherited disease leading to oedema attacks with variable severity and localization predominantly caused by C1-INH deficit. More than 400 mutations have been already identified, however no genetic analysis of a Brazilian cohort of HAE patients with C1-INH deficiency has been published. Our aim was to perform genetic analysis of C1-INH gene (SERPING1) in Brazilian HAE...

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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: 26812872
DOI: 10.1515/hsz-2015-0222

Genes

SERPING1

Variants

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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