Article
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Respiratory research - 7 Oct 2014
Lara Beatriz, Martínez Maria Teresa, Blanco Ignacio, Hernández-Moro Cristina, Velasco Eladio A, Ferrarotti Ilaria, Rodriguez-Frias Francisco, Perez Laura, Vazquez Irene, Alonso Javier, Posada Manuel, Martínez-Delgado Beatriz
Abstract excerpt
BACKGROUND: Severe Alpha-1 Antitrypsin (AAT) deficiency is a hereditary condition caused by mutations in the SERPINA1 gene, which predisposes to lung emphysema and liver disease. It is usually related to PI*Z alleles, and less frequent to rare and null (QO) alleles. Null-AAT alleles represent the end of a continuum of variants associated with profound AAT deficiency and extremely increased risk of emphysema....
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