Genotypic Frequencies of Mutations Associated with Alpha-1 Antitrypsin Deficiency in Unrelated Bone Marrow Donors from the Murcia Region Donor Registry in the Southeast of Spain

Alpha-1 antitrypsin (AAT1) deficiency (AAT1D) is an inherited disease with an increased risk of chronic obstructive pulmonary disease (COPD), liver disease, and skin and blood vessel problems. AAT1D is caused by mutations in the SERPINE1 gene (Serine Protease Inhibitor, group A, member 1). Numerous...

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Detalles Bibliográficos
Autores principales: Cuenca, Irene, Botella, Carmen, Moya-Quiles, María Rosa, Jimenez-Coll, Víctor, Galian, José Antonio, Martinez-Banaclocha, Helios, Muro-Pérez, Manuel, Minguela, Alfredo, Legaz, Isabel, Muro, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486455/
https://www.ncbi.nlm.nih.gov/pubmed/37685383
http://dx.doi.org/10.3390/diagnostics13172845

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10486455/
https://www.ncbi.nlm.nih.gov/pubmed/37685383
http://dx.doi.org/10.3390/diagnostics13172845

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