title: Alpha1-antitrypsin deficiency. 1: epidemiology of alpha1-antitrypsin deficiency.
abstract: The protein and molecular characteristics of variants of the alpha1-antitrypsin (AAT) gene are described, and available data on the genetic epidemiology of AAT deficiency are presented.
authors.affiliation: Laboratorio di Biochimica e Genetica, Clinica Malattie Apparato Respiratorio, IRCCS Policlinico San Matteo, Università di Pavia, Italy. m.luisetti@smatteo.pv.it
authors.forename: M
authors.initials: M
authors.lastname: Luisetti
authors.forename: N
authors.initials: N
authors.lastname: Seersholm
mesh_terms: D017677:Age Distribution; D000569:Americas / Q000453:epidemiology; D000596:Amino Acids / Q000235:genetics; D001208:Asia / Q000453:epidemiology; D001315:Australia / Q000453:epidemiology; D003062:Codon / Q000235:genetics; D005060:Europe / Q000453:epidemiology; D005091:Exons / Q000235:genetics; D006801:Humans; D009520:New Zealand / Q000453:epidemiology; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency / Q000453:epidemiology* / Q000235:genetics
chemical_list: D000596:Amino Acids; D003062:Codon; D000515:alpha 1-Antitrypsin