α1-Antitrypsin phenotypes and associated serum protein concentrations in a large clinical population
JA Bornhorst, DN Greene, ER Ashwood, DG Grenache - Chest, 2013 - Elsevier
Background α 1-Antitrypsin (AAT) deficiency variants reduce the concentration of serum AAT
protease inhibitor and can lead to the development of pulmonary and hepatic disease.
Relative frequencies of rare AAT variant phenotypes (non-M, Z, and S) and associated
serum concentrations in the clinical population have not been thoroughly described.
Methods Protein phenotypes were determined by isoelectric focusing electrophoresis for
72,229 consecutive samples. Phenotype frequencies, median serum concentrations, and …
protease inhibitor and can lead to the development of pulmonary and hepatic disease.
Relative frequencies of rare AAT variant phenotypes (non-M, Z, and S) and associated
serum concentrations in the clinical population have not been thoroughly described.
Methods Protein phenotypes were determined by isoelectric focusing electrophoresis for
72,229 consecutive samples. Phenotype frequencies, median serum concentrations, and …