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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Dettagli Bibliografici
Autori principali: Denden, Sabri, Leban, Nadia, Hayek, Donia, Knani, Jalel, Chibani, Jemni Ben, Khelil, Amel Haj
Natura: Artigo
Lingua:Inglês
Pubblicazione: Sociedade Brasileira de Genética 2010
Soggetti:
Human and Medical Genetics
Accesso online: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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