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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Detalles Bibliográficos
Autores principales: Ljujic, Mila, Topic, Aleksandra, Nikolic, Aleksandra, Divac, Aleksandra, Grujic, Milan, Mitic-Milikic, Marija, Radojkovic, Dragica
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036068/
https://www.ncbi.nlm.nih.gov/pubmed/21637596
http://dx.doi.org/10.1590/S1415-47572009005000100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036068/
https://www.ncbi.nlm.nih.gov/pubmed/21637596
http://dx.doi.org/10.1590/S1415-47572009005000100

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