Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaHumansFemaleBronchiectasisalpha 1-Antitrypsin Deficiencyalpha 1-Antitrypsin
Prevalence of SERPINA1 mutations in a bronchiectasis cohort: implications of extended screening for alpha-1 antitrypsin deficiency.
Caroline Souza Sokoloski, Mariane Gonçalves Martynychen Canan, Cleverson Alex Leitão, Karin Mueller Storrer
Published: 202510.36416/1806-3756/e20250181
Abstract
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 und…
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