A novel alpha-1 antitrypsin gene variant in a patient with Kartagener's syndrome: a case report
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Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kart... ...
