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Review series
α1-Antitrypsin deficiency · 1: Epidemiology of α1-antitrypsin deficiency
  1. M Luisetti1,
  2. N Seersholm2
  1. 1Laboratorio di Biochimica e Genetica, Clinica Malattie Apparato Respiratorio, IRCCS Policlinico San Matteo, Università di Pavia, Italy
  2. 2Department of Internal Medicine I, Bispebjerg Hospital, Copenhagen, Denmark
  1. Correspondence to:
    Dr M Luisetti
    Clinica di Malattie dell’Apparato Respiratorio, IRCCS Policlinico San Matteo, Via Taramelli 5, 27100 Pavia, Italy; m.luisettismatteo.pv.it

Abstract

The protein and molecular characteristics of variants of the α1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.

  • α1-antitrypsin deficiency
  • genotype
  • isoelectric focusing
  • population screening

https://doi.org/10.1136/thorax.2003.006494

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    Footnotes

    • In part supported by IRCCS Policlinico San Matteo Ricerca Corrente Grants, Italian MIUR Progetti di Interesse Nazionale 2002, Fondazione Cariplo, Bayer EU, and Altana Pharma.