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Research Article: Alpha- Antitrypsin Gene Variants in Patients without Severe Deficiency Diagnosed with Pulmonary Emphysema on Chest CT

Date Published: 2024-02-03

Introduction:
Alpha- antitrypsin (AAT) deficiency is a condition derived from variants of the SERPINA (serine protease inhibitor) gene, which can manifest clinically as pulmonary emphysema, liver cirrhosis, neutrophilic panniculitis, systemic vasculitis, and possibly other diseases; however, more than one-third of cases present no symptoms during their lifetime. , The laboratory diagnosis of AAT deficiency is based on quantitative AAT determination and identification of the phenotype in serum. Molecular analysis of the AAT…

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