Article
Distribution of the Clinical Manifestations of Alpha 1 Antitrypsin Deficiency in Respiratory Outpatients from an Area of Northern Italy.
Respiration; international review of thoracic diseases - 1 Jan 2022
Aiello Marina, Marchi Laura, Ferrarotti Ilaria, Frizzelli Annalisa, Pisi Roberta, Calzetta Luigino, Manari Gaia, Pelà Giovanna, Russo Annalisa, Minerba Roberta, Aloe Rosalia, Ranzieri Silvia, Corradi Massimo, Chetta Alfredo
Abstract excerpt
BACKGROUND: Alpha 1 antitrypsin deficiency (AATD) is an autosomal codominant genetic condition that affects Caucasians of the European population due to the presence of a deficient allele of the SERPINA1 gene. A frequency of about 1/5,000 individuals has been estimated in Italy. OBJECTIVES: The aim of the study was to evaluate the distribution of the clinical manifestations of severe and intermediate genetic AATD...
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