Article
Molecular mechanisms of alpha1-antitrypsin null alleles.
Respiratory medicine - 1 Aug 2000
Lee J H, Brantly M
Abstract excerpt
Alpha1-antitrypsin (alpha1-AT) is the most abundant circulating inhibitor of serine proteases and therefore is essential to normal protease-anti-protease homeostasis. Inheritance of two parental alpha1-AT deficiency alleles is associated with a substantially increased risk for development of emphysema and liver disease. In very rare circumstances individuals may inherit alpha1-AT null alleles. Null alpha1-AT...
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