Prevalence and phenotype of subjects carrying rare variants in Argentina for alpha1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that predisposes to COPD and liver disease. A plasma concentration C, L30R) compound heterozygote with Z allele. Rare mutations not detected with current allele-specific testing and/or IEF underlie a substantial proportion of genetic AATD. Full-gene sequencing has the ability to improve accuracy in the diagnosis of AATD and solve the discordances of dosage and pheno/geno.