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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...

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Detalles Bibliográficos
Autores principales: Denden, Sabri, Leban, Nadia, Hayek, Donia, Knani, Jalel, Chibani, Jemni Ben, Khelil, Amel Haj
Formato: Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2010
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