Article
Facilitating the laboratory diagnosis of α1-antitrypsin deficiency.
American journal of clinical pathology - 1 Feb 2013
Greene Dina N, Elliott-Jelf M C, Straseski Joely A, Grenache David G
Abstract excerpt
α(1)-Antitrypsin (AAT) deficiency leads to deterioration of the lungs that can be prevented with diagnosis and treatment. Isoelectric focusing (IEF) electrophoresis is the current biochemical gold standard for detecting AAT deficiency variants but involves complex interpretation. Variant AAT samples were collected over a 2-year period. Stability of AAT for phenotype determination was assessed in whole blood,...
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