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The prevalence of alpha-1 antitrypsin deficiency in Ireland

<p>Abstract</p> <p>Background</p> <p>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 associat...

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Autors principals: Morris Valerie B, Dimitrov Borislav D, O'Brien Geraldine, Kelleher Dermot P, McPartlin Joseph, Floyd Olwen, O'Connor Catherine A, Carroll Tomás P, Taggart Clifford C, McElvaney Noel G
Format: Artigo
Idioma:Inglês
Publicat: BMC 2011-07-01
Col·lecció:Respiratory Research
Accés en línia:http://respiratory-research.com/content/12/1/91
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