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Antitrypsin (AAT) Deficiency-α1

  1. Diane W Cox

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006101

eLS

eLS

How to Cite

Cox, D. W. 2006. Antitrypsin (AAT) Deficiency-α1. eLS.

Author Information

  1. University of Alberta, Alberta, Canada

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Alpha-1-antitrypsin deficiency is one of the more common metabolic disorders, and is usually associated with one common gene mutation. The deficiency results in increased susceptibility to chronic obstructive pulmonary disease and liver disease, both in childhood and adult life.

Keywords:

  • serine proteinase inhibitor;
  • serpin;
  • emphysema;
  • liver disease, PI types, lung