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Functional characterization of a SNP (F51S) found in human alpha 1‐antitrypsin

BACKGROUND: Alpha 1‐antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans. Genetic variations including single nucleotide polymorphisms (SNPs) of SERPINA1 are responsible for A1AT deficiency, but the characteristics of the SN...

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Detalles Bibliográficos
Autores principales:	Trinh, Hong‐Nhung, Jang, Sei‐Heon, Lee, ChangWoo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687665/ https://www.ncbi.nlm.nih.gov/pubmed/31251477 http://dx.doi.org/10.1002/mgg3.819

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