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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Mol Genet Genomic Med
Egile Nagusiak: Trinh, Hong‐Nhung, Jang, Sei‐Heon, Lee, ChangWoo
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2019
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6687665/
https://ncbi.nlm.nih.gov/pubmed/31251477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.819
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