The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes

Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in SERPINA1, is one of the most common inherited diseases. Since it is associated with a high disease burden and partially prevented by smoking cessation, identification of PI*ZZ individuals through genotyping could improve heal...

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Detalles Bibliográficos
Autores principales: Nakanishi, Tomoko, Forgetta, Vincenzo, Handa, Tomohiro, Hirai, Toyohiro, Mooser, Vincent, Lathrop, G. Mark, Cookson, William O.C.M., Richards, J. Brent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7726845/
https://www.ncbi.nlm.nih.gov/pubmed/32675199
http://dx.doi.org/10.1183/13993003.01441-2020

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