Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency

Abstract excerpt

Alpha1-antitrypsin deficiency (AATD) is a genetic condition associated with an increased risk of developing chronic obstructive pulmonary disease (COPD) early in life and, to a lesser extent, liver disease.1 Significant advances have been made during the last decades in understanding its epidemiology and it has been recently suggested that AATD is one of the commonest inherited disorders not only in Caucasians...

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