title: Alpha1-antitrypsin deficiency: liver disease associated with retention of a mutant secretory glycoprotein in the endoplasmic reticulum.
authors.affiliation: Department of Pediatrics, University of Pittsburgh School of Medicine, PA, USA.
authors.forename: David H
authors.initials: DH
authors.lastname: Perlmutter
mesh_terms: D000818:Animals; D001343:Autophagy / Q000502:physiology; D004721:Endoplasmic Reticulum / Q000378:metabolism*; D006801:Humans; D008107:Liver Diseases / Q000209:etiology / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation; D017510:Protein Folding; D000515:alpha 1-Antitrypsin / Q000235:genetics / Q000378:metabolism*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000378:metabolism* / Q000503:physiopathology
chemical_list: D000515:alpha 1-Antitrypsin