PI*Mpalermo: A New Alpha-1-Antitrypsin Deficiency Allele Detected by DNA Sequence Analysis in Two Families
Alpha-l-antitrypsin (αlAT) is a member of the serine proteinase inhibitor (serpin) superfamily. The 52-kD glycoprotein is mainly synthesized in the liver and functions as the major plasma inhibitor of neutrophil elastase. αlAT deficiency is an inherited autosomal disorder associated with chronic obstructive lung disease and childhood liver disease (Crystal 1990). The highly polymorphic single-copy gene has been mapped to chromosome 14q32.1
KeywordsNeutrophil Elastase Chronic Obstructive Lung Disease Deficiency Allele Independent Mutational Event Autosomal Disorder
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