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Article

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency.

Journal of translational medicine - 4 Jul 2015

Matamala Nerea, Martínez Maria Teresa, Lara Beatriz, Pérez Laura, Vázquez Irene, Jimenez Azucena, Barquín Miguel, Ferrarotti Ilaria, Blanco Ignacio, Janciauskiene Sabina, Martinez-Delgado Beatriz

Abstract excerpt

BACKGROUND: SERPINA1 is the gene for alpha-1 antitrypsin (AAT), an acute phase protein with anti-protease and immunoregulatory activities. Mutations in SERPINA1 gene cause AAT deficiency and predispose individuals to early-onset emphysema and liver diseases. Expression of the SERPINA1 gene is regulated by different promoters and alternative splicing events among non-coding exons 1A, 1B and 1C. METHODS: We have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26141700
DOI: 10.1186/s12967-015-0585-y
PMCID: PMC4490674

Genes

SERPINA1

Provenance

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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