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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...
Kaydedildi:
| Asıl Yazarlar: | , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Sociedade Brasileira de Genética
2010
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| Konular: | |
| Online Erişim: | 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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