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Updated: Apr 12, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Lígia Rodrigues Fernandes1, Luis Vaz Rodrigues1, Filipa Costa1
1Department of Pulmonology, Hospital Geral-Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
This study tracks a patient with severe alpha-1 antitrypsin (AAT) deficiency due to the rare Q0Ourém allele over 18 years. Augmentation therapy maintained stability and quality of life despite severe lung disease.
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