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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...

詳細記述

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書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Greulich, Timm, Nell, Christoph, Herr, Christian, Vogelmeier, Claus, Kotke, Viktor, Wiedmann, Stefan, Wencker, Marion, Bals, Robert, Koczulla, Andreas Rembert
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2016
主題:
オンライン・アクセス: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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