Article
The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease.
COPD - 1 May 2015
O'Brien M Emmet, Pennycooke Kevin, Carroll Tomás P, Shum Jonathan, Fee Laura T, O'Connor Catherine, Logan P Mark, Reeves Emer P, McElvaney Noel G
Abstract excerpt
Individuals with Alpha-1 antitrypsin deficiency (AATD) have mutations in the SERPINA1 gene causing genetic susceptibility to early onset lung and liver disease that may result in premature death. Environmental interactions have a significant impact in determining the disease phenotype and outcome in AATD. The aim of this study was to assess the impact of smoke exposure on the clinical phenotype of AATD in...
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