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

Internet

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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