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Article

Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis.

Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2011

Greene Dina N, Procter Melinda, Grenache David G, Lyon Elaine, Bornhorst Joshua A, Mao Rong

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin (AAT) is a protease inhibitor that protects the lungs from degradation by neutrophil elastase. AAT deficiency is associated with both lung and liver diseases. AAT deficiency is diagnosed using a combination of genetic and biochemical tests. Here we demonstrate how polymorphisms in the AAT gene can lead to genotype/phenotype discrepancies in common AAT assays. METHODS: Total AAT was...

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Identifiers

PMID: 21497588
DOI: 10.1016/j.cca.2011.03.032

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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