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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Hong‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Alpha 1‐antitrypsin deficiency
F51S
polymerization
single nucleotide polymorphism
thermal stability
Online Access:https://doi.org/10.1002/mgg3.819

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