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Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency

Alpha1-antitrypsin (AAT) is a serine protease inhibitor that is encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD), which is associated with an increased risk of lung and/or liver disease. On the basis of electrophoretic migration, AAT variants...

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Detalles Bibliográficos
Autores principales: Barzon, Valentina, Ottaviani, Stefania, Balderacchi, Alice Maria, Corino, Alessandra, Piloni, Davide, Accordino, Giulia, Coretti, Manuela, Mariani, Francesca, Corsico, Angelo Guido, Ferrarotti, Ilaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9456480/
https://www.ncbi.nlm.nih.gov/pubmed/36077263
http://dx.doi.org/10.3390/ijms23179859

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