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pubmed-article:21636698pubmed:abstractText?-1-Antitrypsin (A1AT) deficiency results from a genetic disorder at 2 common loci. Diagnosis requires quantification of A1AT and subsequent identification of the specific variant. The current algorithm of laboratory testing for the diagnosis of A1AT deficiency uses a combination of quantification (nephelometry), genotyping, and/or phenotyping. We developed a multiple reaction monitoring liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for simultaneous quantification of A1AT and identification of the 2 most common deficiency alleles present in 95% of the patients with A1AT deficiency.lld:pubmed
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pubmed-article:21636698pubmed:year2011lld:pubmed
pubmed-article:21636698pubmed:articleTitleSimultaneous phenotyping and quantification of ?-1-antitrypsin by liquid chromatography-tandem mass spectrometry.lld:pubmed
pubmed-article:21636698pubmed:affiliationDivision of Clinical Pharmacology, Department of Molecular and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.lld:pubmed
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