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Article

Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency.

Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia - 1 Jan 2025

Sokoloski Caroline Souza, Canan Mariane Gonçalves Martynychen, Leitão Cleverson Alex, Storrer Karin Mueller

Abstract excerpt

OBJECTIVE: To evaluate the prevalence of alpha-1 antitrypsin (AAT) variants through SERPINA1 genotyping in patients with non-cystic fibrosis bronchiectasis, and assess their clinical, functional and radiological characteristics. AAT deficiency is underdiagnosed, and an etiology to be considered when evaluating bronchiectasis. METHODS: A cross-sectional study was conducted at an outpatient clinic focused on...

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Identifiers

PMID: 41370566
DOI: 10.36416/1806-3756/e20250181
PMCID: PMC13143675

Genes

SERPINA1

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