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Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant inherited disease that is significantly underdiagnosed. We have previously shown that the combination of an awareness campaign with the offer of free diagnostic testing results in the detection of a relevant number of sever...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Greulich, Timm, Nell, Christoph, Herr, Christian, Vogelmeier, Claus, Kotke, Viktor, Wiedmann, Stefan, Wencker, Marion, Bals, Robert, Koczulla, Andreas Rembert
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901499/
https://ncbi.nlm.nih.gov/pubmed/27282198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0453-8
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