The prevalence of alpha-1 antitrypsin deficiency in Ireland

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 d...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155497/
https://ncbi.nlm.nih.gov/pubmed/21752289
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1465-9921-12-91
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