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PI*Mpalermo: A New Alpha-1-Antitrypsin Deficiency Allele Detected by DNA Sequence Analysis in Two Families

  • S. Weidinger
  • J.-P. Faber
  • M. Strobelt
  • F. Schwarzfischer
Conference paper
Part of the Advances in Forensic Haemogenetics book series (HAEMOGENETICS, volume 5)

Abstract

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

Keywords

Neutrophil Elastase Chronic Obstructive Lung Disease Deficiency Allele Independent Mutational Event Autosomal Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag Berlin Heidelberg 1994

Authors and Affiliations

  • S. Weidinger
    • 1
  • J.-P. Faber
    • 2
  • M. Strobelt
    • 3
  • F. Schwarzfischer
    • 4
  1. 1.Medizinisch Immunologische LaboratorienMünchenGermany
  2. 2.Institut für Klinische BiochemieUniversität BonnBonnGermany
  3. 3.Kinderklinik im Dr. von Haunerschen KinderspitalUniversität MünchenMünchenGermany
  4. 4.Institut für Anthropologie u. HumangenetikUniversität MünchenMünchenGermany

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