Misfolding of alpha1-antitrypsin (an inhibitor of elastase and proteinase-3) which is produced in the liver, leading to reduced plasma levels and accumulation within the liver:
- Emphysema
- Most clinically significant mutation is PiZ
Deck:
Misfolding of alpha1-antitrypsin (an inhibitor of elastase and proteinase-3) which is produced in the liver, leading to reduced plasma levels and accumulation within the liver:
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