Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.

@article{Snyder2006DiagnosisOA,
  title={Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping.},
  author={Melissa R. Snyder and Jerry A. Katzmann and Malinda L. Butz and Carmen Wiley and Ping Yang and D. Brian Dawson and Kevin C. Halling and W. Edward Highsmith and Stephen N. Thibodeau},
  journal={Clinical chemistry},
  year={2006},
  volume={52 12},
  pages={2236-42}
}
BACKGROUND Laboratory testing in suspected alpha-1-antitrypsin (A1AT) deficiency involves analysis of A1AT concentrations and identification of specific alleles by genotyping or phenotyping. The purpose of this study was to define and evaluate a strategy that provides reliable laboratory evaluation of A1AT deficiency. METHODS Samples from 512 individuals referred for A1AT phenotype analysis were analyzed by quantification, phenotype, and genotype. A1AT concentrations were measured by… CONTINUE READING
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