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antitrypsin deficiency

 

Definition: deficiency of a1-antitrypsin, a serum protease inhibitor, is associated with emphysema and/or liver cirrhosis. By isoelectric focusing, numerous variants have been identified, with different levels of normal activity; autosomal recessive inheritance, caused by mutation in the P1 gene on chromosomal 14q.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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