Article
Molecular characterization of the new defective P(brescia) alpha1-antitrypsin allele.
Human mutation - 1 Aug 2009
Medicina Daniela, Montani Nadia, Fra Anna M, Tiberio Laura, Corda Luciano, Miranda Elena, Pezzini Alessandro, Bonetti Fausta, Ingrassia Rosaria, Scabini Roberta, Facchetti Fabio, Schiaffonati Luisa
Abstract excerpt
Alpha1-antitrypsin (alpha(1)AT) deficiency is a hereditary disorder associated with reduced alpha(1)AT serum level, predisposing adults to pulmonary emphysema. Among the known mutations of the alpha(1)AT gene (SERPINA1) causing alpha(1)AT deficiency, a few alleles, particularly the Z allele, may also predispose adults to liver disease. We have characterized a new defective alpha(1)AT allele (c.745G>C) coding for...
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