Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

<p>Abstract</p> <p>Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum. The...

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Bibliographic Details
Main Authors: Stolk Jan, Fregonese Laura
Format: Article
Language:English
Published: BMC 2008-06-01
Series:Orphanet Journal of Rare Diseases
Online Access:http://www.ojrd.com/content/3/1/16

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