Article
Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3' enhancer polymorphism in alpha-1-antitrypsin.
Pediatric pulmonology - 1 Jun 2006
Courtney Julia M, Plant Barry J, Morgan Kevin, Rendall Jackie, Gallagher Charles, Ennis Madeleine, Kalsheker Noor, Elborn Stuart, O'Connor Clare M
Abstract excerpt
Modifier genes other than CFTR are thought to influence lung disease phenotype in cystic fibrosis (CF). In this study, we investigated the relationship between a polymorphism (1237 G --> A) in the 3' enhancer region of the alpha-1-antitrypsin (AAT) gene and pulmonary disease severity in 320 CF patients recruited from two independent adult referral centers in Ireland, and evaluated the in vivo effect of the...
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