Article
Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye.
BMC pulmonary medicine - 18 Dec 2024
Karadoğan Dilek, Dreger Bettina, Osaba Lourdes, Ahmetoğlu Enes, Özyurt Songül, Yılmaz Kara Bilge, Hürsoy Nur, Telatar Tahsin Gökhan, Şahin Ünal
Abstract excerpt
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is associated with increased susceptibility to chronic obstructive pulmonary disease (COPD). AATD results from mutations in the SERPINA1 gene and over 500 rare mutations have been identified. Despite these findings and recommendations from major healthcare organizations, testing of COPD patients and their family members for AATD remains inadequate. METHODS: We...
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