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Article

Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology.

International journal of chronic obstructive pulmonary disease - 1 Jan 2019

Veith Martina, Klemmer Andreas, Anton Iker, El Hamss Rachid, Rapun Noelia, Janciauskiene Sabina, Kotke Viktor, Herr Christian, Bals Robert, Vogelmeier Claus Franz, Greulich Timm

Abstract excerpt

Purpose: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The traditional algorithm for laboratory testing of AATD involves the analysis of AAT concentrations (nephelometry), phenotyping (isoelectric focusing, IEF), and...

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Identifiers

PMID: 31819391
DOI: 10.2147/COPD.S224221
PMCID: PMC6873957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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