Alpha1-antitrypsin deficiency: liver disease associated with retention of a mutant secretory glycoprotein in the endoplasmic reticulum.
Perlmutter
David H
DH
Department of Pediatrics, University of Pittsburgh School of Medicine, PA, USA.
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
D000515:alpha 1-Antitrypsin