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Article

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

Clinical chemistry - 1 Dec 2006

Snyder Melissa R, Katzmann Jerry A, Butz Malinda L, Wiley Carmen, Yang Ping, Dawson D Brian, Halling Kevin C, Highsmith W Edward, Thibodeau Stephen N

Abstract excerpt

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...

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PMID: 17053153
DOI: 10.1373/clinchem.2006.072991

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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