Article
Alpha-1-antitrypsin deficiency: a new paradigm for hepatocellular carcinoma in genetic liver disease.
Hepatology (Baltimore, Md.) - 1 Sept 2005
Rudnick David A, Perlmutter David H
Abstract excerpt
Liver disease in alpha-1-antitrypsin (alpha1AT) deficiency is caused by a gain-of-toxic function mechanism engendered by the accumulation of a mutant glycoprotein in the endoplasmic reticulum (ER). The extraordinary degree of variation in phenotypical expression of this liver disease is believed to be determined by genetic modifiers and/or environmental factors that influence the intracellular disposal of the...
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