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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...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Sociedade Brasileira de Genética
2010
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| Materias: | |
| 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 |