Article
Liver disease in alpha-1 antitrypsin deficiency: current understanding and future therapy.
COPD - 1 Mar 2013
Teckman Jeffrey H
Abstract excerpt
Alpha-1 antitrypsin Deficiency (AATD) is a common, but under recognized metabolic genetic disease. Although many mutations in the alpha-1 antitrypsin (AAT) gene are described, the Z variant is the allele overwhelmingly associated with liver disease. PI*ZZ homozygotes occur in approximately 1 in 2,000-5,000 births in North American and European populations. The AAT protein is synthesized in large quantities by the...
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