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    • Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid 

      Lara Gallego, Beatriz; Martínez, María Teresa; Blanco, Ignacio; Hernández, Cristina; Velasco, Eladio; Ferrarotti, Ilaria; Rodríguez, Francisco; Perez, Laura; Vazquez, Irene; Alonso, Javier; Posada, Manuel; Martínez-Delgado, Beatriz (BioMed Central, 2014)
      [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, ...