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Article

Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.

Journal of clinical laboratory analysis - 1 Jul 2020

Ottaviani Stefania, Barzon Valentina, Buxens Amaya, Gorrini Marina, Larruskain Amaia, El Hamss Rachid, Balderacchi Alice M, Corsico Angelo G, Ferrarotti Ilaria

Abstract excerpt

BACKGROUND: Alpha1-antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk to develop lung and liver diseases at an early age. AAT is encoded by the highly polymorphic SERPINA1 gene. The most common deficiency alleles are S and Z, but more than 150 rare variants lead to low levels of the protein. To identify these...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32181528
DOI: 10.1002/jcla.23279
PMCID: PMC7370739

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