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Molecular Mechanism of Z α1-Antitrypsin Deficiency
The Z mutation (E342K) of α1-antitrypsin (α1-AT), carried by 4% of Northern Europeans, predisposes to early onset of emphysema due to decreased functional α1-AT in the lung and to liver cirrhosis due to accumulation of polymers in hepatocytes. However, it remains unclear why the Z mutation causes in...
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| Pubblicato in: | J Biol Chem |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2016
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4957051/ https://ncbi.nlm.nih.gov/pubmed/27246852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.727826 |
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