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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Main Authors: Fra, Anna M., Gooptu, Bibek, Ferrarotti, Ilaria, Miranda, Elena, Scabini, Roberta, Ronzoni, Riccardo, Benini, Federica, Corda, Luciano, Medicina, Daniela, Luisetti, Maurizio, Schiaffonati, Luisa
格式: Artigo
語言:Inglês
出版: Public Library of Science 2012
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3377647/
https://ncbi.nlm.nih.gov/pubmed/22723858
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038405
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