Article
Three new alpha1-antitrypsin deficiency variants help to define a C-terminal region regulating conformational change and polymerization.
PloS one - 1 Jan 2012
Fra Anna M, Gooptu Bibek, Ferrarotti Ilaria, Miranda Elena, Scabini Roberta, Ronzoni Riccardo, Benini Federica, Corda Luciano, Medicina Daniela, Luisetti Maurizio, Schiaffonati Luisa
Abstract excerpt
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 rare alleles have been reported. While the plasma AAT deficiency is a common trait of the disease, only a few AAT...
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