Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z.

@article{Hutchison1998Alpha1D,
  title={Alpha 1-antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z.},
  author={David C. Hutchison},
  journal={Respiratory medicine},
  year={1998},
  volume={92 3},
  pages={367-77}
}
alpha 1-Antitrypsin (AT) is the principal serum inhibitor of proteolytic enzymes such as neutrophil elastase. AT can exist as over 90 different genetically determined variants known as the Pi system; the three most important variants are type M (90% of population) and types S and Z, two of the commoner abnormal variants. Homozygotes of type Z have a severe reduction in the serum AT concentration and may develop pulmonary emphysema or hepatic cirrhosis. Heterozygotes of type SZ have a less… CONTINUE READING
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