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Deficiency Mutations of Alpha-1 Antitrypsin. Effects on Folding, Function, and Polymerization
Misfolding, polymerization, and defective secretion of functional alpha-1 antitrypsin underlies the predisposition to severe liver and lung disease in alpha-1 antitrypsin deficiency. We have identified a novel (Ala336Pro, Baghdad) deficiency variant and characterized it relative to the wild-type (M)...
Shranjeno v:
| izdano v: | Am J Respir Cell Mol Biol |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Thoracic Society
2016
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4742932/ https://ncbi.nlm.nih.gov/pubmed/26091018 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2015-0154OC |
| Oznake: |
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