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Molecular diagnosis of alpha1‐antitrypsin deficiency: A new method based on Luminex technology

BACKGROUND: Alpha1‐antitrypsin deficiency (AATD) is an under‐diagnosed hereditary disorder characterized by reduced serum levels of alpha1‐antitrypsin (AAT) and increased risk to develop lung and liver diseases at an early age. AAT is encoded by the highly polymorphic SERPINA1 gene. The most common...

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Detalles Bibliográficos
Autores principales: Ottaviani, Stefania, Barzon, Valentina, Buxens, Amaya, Gorrini, Marina, Larruskain, Amaia, El Hamss, Rachid, Balderacchi, Alice M., Corsico, Angelo G., Ferrarotti, Ilaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7370739/
https://www.ncbi.nlm.nih.gov/pubmed/32181528
http://dx.doi.org/10.1002/jcla.23279