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Identification of a rare p.G320R alpha-1-antitrypsin variant in emphysema and lung cancer patients

The alpha-1-antitrypsin (A1AT) gene is highly polymorphic, with more than 100 genetic variants identified of which some can affect A1AT protein concentration and/or function and lead to pulmonary and/or liver disease. This study reports on the characterization of a p.G320R variant found in two patie...

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Detalhes bibliográficos
Main Authors: Ljujic, Mila, Topic, Aleksandra, Nikolic, Aleksandra, Divac, Aleksandra, Grujic, Milan, Mitic-Milikic, Marija, Radojkovic, Dragica
Formato: Artigo
Idioma:Inglês
Publicado em: Sociedade Brasileira de Genética 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3036068/
https://ncbi.nlm.nih.gov/pubmed/21637596
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572009005000100
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