Background and aims Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant variant of alpha-1 antitrypsin (AAT) within ...

The recent conference, `Alpha 1-antitrypsin deficiency and other conformational diseases', held in Airlie, Virginia, USA (27–30 June, 2000) focused on some of the common pathways by which cells ...

People with Pi*ZZ AATD do not naturally produce wild-type alpha-1 antitrypsin (M-AAT) protein. Thus, detecting the M-AAT protein confirms that mutant Z-AAT mRNA has been successfully edited.