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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Bibliografiske detaljer
Main Authors: Denden, Sabri, Leban, Nadia, Hayek, Donia, Knani, Jalel, Chibani, Jemni Ben, Khelil, Amel Haj
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2010
Fag:
Human and Medical Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3036143/
https://ncbi.nlm.nih.gov/pubmed/21637569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572010005000089
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