Molecular characterisation of the defective α1-antitrypsin alleles PI Mwürzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle)

@article{Poller1999MolecularCO,
  title={Molecular characterisation of the defective α1-antitrypsin alleles PI Mw{\"u}rzburg (Pro369Ser), Mheerlen (Pro369Leu), and Q0lisbon (Thr68lle)},
  author={W. Poller and Frank Merklein and Sonja Schneider-Rasp and Anja Haack and H. Fechner and Haili Wang and Ioannis K. Anagnostopoulos and Sebastian Weidinger},
  journal={European Journal of Human Genetics},
  year={1999},
  volume={7},
  pages={321-331}
}
Deficiency of the serine proteinase inhibitor (serpin) α1-antitrypsin (α1AT) is the most common autosomal recessive genetic disorder in Northern Europe. α1AT is the physiological regulator of the proteolytic enzyme neutrophil elastase and severe deficiency states are associated with an increased risk of developing chronic obstructive pulmonary disease (COPD) as a consequence of chronic proteolytic damage to the lungs. Among the known mutations of the α1AT gene causing severe α1AT deficiency and… CONTINUE READING
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