Article
The selective advantage of alpha1-antitrypsin deficiency.
American journal of respiratory and critical care medicine - 15 May 2006
Lomas David A
Abstract excerpt
The S- and Z-deficiency alleles of alpha1-antitrypsin are found in more than 20% of some white populations. This high gene frequency suggests that these mutations confer a selective advantage, but the biologic mechanism of this has remained obscure. It is now well recognized that the S and Z alleles result in a conformational transition within the alpha1-antitrypsin molecule and the formation of polymers that are...
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