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Three New Alpha1-Antitrypsin Deficiency Variants Help to Define a C-Terminal Region Regulating Conformational Change and Polymerization

Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema. The most common genetic AAT variants found in patients are the mildly deficient S and the severely deficient Z alleles, but several other pathogenic rar...

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Detalles Bibliográficos
Autores principales:	Fra, Anna M., Gooptu, Bibek, Ferrarotti, Ilaria, Miranda, Elena, Scabini, Roberta, Ronzoni, Riccardo, Benini, Federica, Corda, Luciano, Medicina, Daniela, Luisetti, Maurizio, Schiaffonati, Luisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377647/ https://www.ncbi.nlm.nih.gov/pubmed/22723858 http://dx.doi.org/10.1371/journal.pone.0038405

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