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Article

Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing.

The Journal of molecular diagnostics : JMD - 1 Nov 2024

González-Carracedo Mario A, Herrera-Luis Esther, Marco-Simancas María, Escuela-Escobar Ainhoa, Martín-González Elena, Sardón-Prado Olaia, Corcuera Paula, Hernández-Pérez Jose M, Lorenzo-Díaz Fabián, Pérez-Pérez José A

Abstract excerpt

α-1 Antitrypsin (AAT) is an acute-phase reactant with immunomodulatory properties that mainly inhibits neutrophil elastase. Low serum levels cause AAT deficiency (AATD), an underdiagnosed condition that predisposes to pulmonary and hepatic diseases. The SERPINA1 gene, which encodes AAT, contains >500 variants. PI∗Z and PI∗S alleles are the most diagnosed causes of AATD, but the role of the SERPINA1 haplotypes in...

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Identifiers

PMID: 39276924
DOI: 10.1016/j.jmoldx.2024.08.002

Genes

SERPINA1

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