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Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

Alpha-1-Antitrypsin deficiency (AATD), caused by SERPINA1 mutations, is one of the most prevalent Mendelian disorders among individuals of European descend. However, this condition, which is characterized by reduced serum levels of alpha-1-antitrypsin (AAT) and associated with increased risks of pul...

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Detalles Bibliográficos
Autores principales:	Seixas, Susana, Marques, Patricia Isabel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Dove 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997584/ https://www.ncbi.nlm.nih.gov/pubmed/33790624 http://dx.doi.org/10.2147/TACG.S257511

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