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A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report

Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant disease, and different genetic variants are known, some of which very rare. Usual pulmonary manifestations include emphysema, bronchiectasis and asthma. Pulmonary fibrosis is uncommon. We describe a case of a 64 year old man with an ina...

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Detalles Bibliográficos
Autores principales: Afonso, Miguel, Silva, Clara, Pinho, Inês, Vale, Artur, Fernandes, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7883512/
https://www.ncbi.nlm.nih.gov/pubmed/33597804
http://dx.doi.org/10.36141/svdld.v37i4.9877