Article
The prevalence of alpha-1 antitrypsin deficiency in Ireland.
Respiratory research - 13 Jul 2011
Carroll Tomás P, O'Connor Catherine A, Floyd Olwen, McPartlin Joseph, Kelleher Dermot P, O'Brien Geraldine, Dimitrov Borislav D, Morris Valerie B, Taggart Clifford C, McElvaney Noel G
Abstract excerpt
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) results from mutations in the SERPINA1 gene and classically presents with early-onset emphysema and liver disease. The most common mutation presenting with clinical evidence is the Z mutation, while the S mutation is associated with a milder plasma deficiency. AATD is an under-diagnosed condition and the World Health Organisation recommends targeted detection...
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