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α1-antitrypsin Deficiency: A Misfolded Secretory Protein Variant with Unique Effects on the Endoplasmic Reticulum
In the classical form of α1-antitrypsin deficiency (ATD) a point mutation leads to accumulation of a misfolded secretory glycoprotein in the endoplasmic reticulum (ER) of liver cells and so ATD has come to be considered a prototypical ER storage disease. It is associated with two major types of clin...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5310618/ https://www.ncbi.nlm.nih.gov/pubmed/28217691 http://dx.doi.org/10.1515/ersc-2016-0004 |