Article
Molecular analysis of the Pi*Z allele in patients with liver disease.
American journal of medical genetics - 15 Dec 2001
Lima L C, Matte U, Leistner S, Bopp A R, Scholl V C, Giugliani R, da Silveira T R
Abstract excerpt
Alpha1-antitrypsin (AAT) is the main protease inhibitor in human plasma. There are more than 75 variants of this protein that differ from each other by their isoelectric point. Most of these alleles cause a reduction in AAT levels; the most common allele is Pi*Z. The main complications related to the Pi*Z allele are obstructive pulmonary disease and liver disease. Some Pi*Z allele carriers present cholestatic...
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