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Update on α(1)-antitrypsin deficiency

α(1)-Antitrypsin deficiency (AATD) is an inherited metabolic disorder in which mutations in the coding sequence of the SERPINA1 gene prevent secretion of α(1)-antitrypsin (α(1)-AT) and cause predisposition to pulmonary and liver diseases. The heterogeneity of clinical manifestations in AATD is relat...

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Detalles Bibliográficos
Autores principales: Ferrarotti, Ilaria, Ottaviani, Stefania, De Silvestri, Annalisa, Corsico, Angelo G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095240/
https://www.ncbi.nlm.nih.gov/pubmed/30131830
http://dx.doi.org/10.1183/20734735.015018