Alpha 1-antitrypsin deficiency causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha1-antitrypsin deficiency (AATD) is caused by a mutation in the SERPINA1 gene. SERPINA1 is located on chromosome 14.

Causes

References

  1. Hazari YM, Bashir A, Habib M, Bashir S, Habib H, Qasim MA, Shah NN, Haq E, Teckman J, Fazili KM (2017). "Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions". Mutat. Res. 773: 14–25. doi:10.1016/j.mrrev.2017.03.001. PMID 28927525.
  2. Stoller JK (2016). "Alpha-1 antitrypsin deficiency: An underrecognized, treatable cause of COPD". Cleve Clin J Med. 83 (7): 507–14. doi:10.3949/ccjm.83a.16031. PMID 27399863.



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