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Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is caused by mutations in the SERPINA1 gene, which encodes the alpha-1 antitrypsin (AAT) protein. Currently, over 200 SERPINA1 variants have been identified, many of which cause the quantitative and/or qualitative changes in AAT responsible for AATD-associated l...

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Detalles Bibliográficos
Autor principal:	Foil, Kimberly E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8367212/ https://www.ncbi.nlm.nih.gov/pubmed/34408833 http://dx.doi.org/10.1177/20406223211015954

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