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Alpha-1-Antitrypsin Deficiency

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Diseases of the Liver and Bile Ducts

Part of the book series: Current Clinical Practice ((CCP))

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Abstract

Alpha-1-antitrypsin (α1AT) is a protease inhibitor, the deficiency of which is associated with premature emphysema and a wide spectrum of liver disease. This protein is a small glycoprotein that migrates electrophoretically with the α1-globulin fraction of serum. Alpha-1-antitrypsin is a protein coded for by a gene, referred to as PI, located on the long arm of chromosome 14. That certain forms of premature emphysema had an inherited basis was first postulated by Laurell, Eriksson, and Axelsson in 1965 (1). Electrophoretic variants of α1AT were described throughout the 1960s. The first description of infantile liver cirrhosis in a homozygote for α1AT deficiency was made by Gans et al. in 1969 (2). Neonatal cholestasis associated with alpha-1-antitrypsin deficiency was described in 1972 (3).

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Authors
  1. Steven K. Herrine
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  2. Mark A. Zern
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Editor information

Editors and Affiliations

  1. University of Connecticut School of Medicine, Farmington, CT, USA

    George Y. Wu MD, PhD

  2. Hartford Hospital, Hartford, CT, USA

    Jonathan Israel MD

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© 1998 Springer Science+Business Media New York

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Herrine, S.K., Zern, M.A. (1998). Alpha-1-Antitrypsin Deficiency. In: Wu, G.Y., Israel, J. (eds) Diseases of the Liver and Bile Ducts. Current Clinical Practice. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-4612-1808-1_20

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  • DOI: https://doi.org/10.1007/978-1-4612-1808-1_20

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-4612-7293-9

  • Online ISBN: 978-1-4612-1808-1

  • eBook Packages: Springer Book Archive

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