Clinical manifestations of a new alpha‐1 antitrypsin genetic variant: Q0parma

Alpha‐1 antitrypsin deficiency is an autosomal, codominant disorder caused by mutations of the SERPINA1 gene. Several mutations of SERPINA1 have been described associated with the development of pulmonary emphysema and/or chronic liver disease and cirrhosis. Here, we report a very rare PI*Q0parma va...

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Detalles Bibliográficos
Autores principales: Aiello, Marina, Frizzelli, Annalisa, Marchi, Laura, Ferrarotti, Ilaria, Piloni, Davide, Pelà, Giovanna, De Simoni, Alessandro, D'Aloisio, Lorenzo, Calzetta, Luigino, Chetta, Alfredo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008433/
https://www.ncbi.nlm.nih.gov/pubmed/35433011
http://dx.doi.org/10.1002/rcr2.936

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