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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Autori principali:	Irene Cuenca, Carmen Botella, María Rosa Moya-Quiles, Víctor Jimenez-Coll, José Antonio Galian, Helios Martinez-Banaclocha, Manuel Muro-Pérez, Alfredo Minguela, Isabel Legaz, Manuel Muro
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	MDPI AG 2023-09-01
Serie:	Diagnostics
Soggetti:	AAT1 deficiency chronic obstructive pulmonary disease SERPINE1 gene Pi system
Accesso online:	https://www.mdpi.com/2075-4418/13/17/2845
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