Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.

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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Bibliographic Details
Main Authors: Anna M Fra, Bibek Gooptu, Ilaria Ferrarotti, Elena Miranda, Roberta Scabini, Riccardo Ronzoni, Federica Benini, Luciano Corda, Daniela Medicina, Maurizio Luisetti, Luisa Schiaffonati
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3377647?pdf=render

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