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In silico analysis of alpha1-antitrypsin variants: The effects of a novel mutation
Alpha1-antitrypsin (AAT) is a highly polymorphic protein with more than 120 variants that are classified as normal (normal protein secretion), deficient (reduced circulating AAT level caused by defective secretion) or null (no protein secretion). Alpha1-antitrypsin deficiency, one of the most common...
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/PMC3036143/ https://www.ncbi.nlm.nih.gov/pubmed/21637569 http://dx.doi.org/10.1590/S1415-47572010005000089 |