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Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis is essential for implementing preventive measures...

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Detalles Bibliográficos
Autores principales:	Jardim, José R, Casas-Maldonado, Francisco, Fernandes, Frederico Leon Arrabal, Castellano, Maria Vera Cruz de O, Torres-Durán, María, Miravitlles, Marc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Sociedade Brasileira de Pneumologia e Tisiologia 2021
Materias:	Review Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8332724/ https://www.ncbi.nlm.nih.gov/pubmed/34076174 http://dx.doi.org/10.36416/1806-3756/e20200380

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