Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye

Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in Türkiye

Abstract 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 ma...

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Main Authors: Dilek Karadoğan, Bettina Dreger, Lourdes Osaba, Enes Ahmetoğlu, Songül Özyurt, Bilge Yılmaz Kara, Nur Hürsoy, Tahsin Gökhan Telatar, Ünal Şahin
Format: Article
Language:English
Published: BMC 2024-12-01
Series:BMC Pulmonary Medicine
Subjects:
Alpha-1 antitrypsin deficiency
MPalermo
MMalton
COPD
Screening
Tobacco
Online Access:https://doi.org/10.1186/s12890-024-03421-y
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https://doi.org/10.1186/s12890-024-03421-y

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