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Hepatic Fibrosis and Carcinogenesis in α1-Antitrypsin Deficiency: A Prototype for Chronic Tissue Damage in Gain-of-Function Disorders
In α1-antitrypsin (AT) deficiency, a point mutation renders a hepatic secretory glycoprotein prone to misfolding and polymerization. The mutant protein accumulates in the endoplasmic reticulum of liver cells and causes hepatic fibrosis and hepatocellular carcinoma by a gain-of-function mechanism. Ge...
Gorde:
| Egile Nagusiak: | , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Cold Spring Harbor Laboratory Press
2011
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3039936/ https://ncbi.nlm.nih.gov/pubmed/21421920 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a005801 |
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