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REVIEW SERIES |
1-Antitrypsin deficiency · 1: Epidemiology of 1-antitrypsin deficiency
1 Laboratorio di Biochimica e Genetica, Clinica Malattie Apparato Respiratorio, IRCCS Policlinico San Matteo, Università di Pavia, Italy
2 Department of Internal Medicine I, Bispebjerg Hospital, Copenhagen, Denmark
Correspondence to:
Correspondence to:
Dr M Luisetti
Clinica di Malattie dell’Apparato Respiratorio, IRCCS Policlinico San Matteo, Via Taramelli 5, 27100 Pavia, Italy; m.luisetti{at}smatteo.pv.it
ABSTRACT
The protein and molecular characteristics of variants of the 
1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.
Keywords: 1-antitrypsin deficiency; genotype; isoelectric focusing; population screening
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