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Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine

Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease. Other manifestations include bronchiectasis, necrotizing panniculitis and granu...

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Publicado en:F1000Res
Autor Principal: Hersh, Craig P.
Formato: Artigo
Idioma:Inglês
Publicado: F1000 Research Limited 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5710307/
https://ncbi.nlm.nih.gov/pubmed/29225784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.12399.1
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