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Article

[Analysis of alpha-1-antitrypsin phenotypes and genotypes in patients with early-onset pulmonary emphysema].

Pneumonologia i alergologia polska - 1 Jan 2005

Dwomiczak Szymon, Ziora Dariusz, Konofalski Leszek, Szalaty Monika, Kowalska Anna, Kozielski Jerzy

Abstract excerpt

An increased risk for the development of emphysema occurs in all carriers of deficient variants of Alpha-1-Antitrypsin (A1AT). A DNA polymorphism in the 3' promoter region of A1AT gene (locus Pi), which is important for a modulation of gene expression in a response to inflammation, seems to be an additional genetic risk factor for emphysema. In the study, we present two relatively young patients with panlobular...

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PMID: 16539178

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