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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...
Autores principales: | Ferrarotti, Ilaria, Ottaviani, Stefania, De Silvestri, Annalisa, Corsico, Angelo G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
European Respiratory Society
2018
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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 |
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