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SNP-mediated translational suppression of ERManI modifies the onset of end-stage liver disease in alpha1-antitrypsin deficiency

Inappropriate accumulation of the misfolded Z variant of alpha1-antitrypsin in the hepatocyte endoplasmic reticulum is a risk factor for the development of end-stage liver disease. However, the genetic and environmental factors that contribute to its etiology are poorly understood. ER mannosidase I...

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Autors principals: Pan, Shujuan, Huang, Lu, McPherson, John, Muzny, Donna, Rouhani, Farshid, Brantly, Mark, Gibbs, Richard, Sifers, Richard N.
Format: Artigo
Idioma:Inglês
Publicat: 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2705478/
https://ncbi.nlm.nih.gov/pubmed/19444872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/hep.22974
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