Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency

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Authors

Nerea Matamala · Instituto de Investigación de Enfermedades Raras

Lourdes Osaba · Grifols (Spain)

Estrella Drobnic · Grifols (Spain)

Sara Gil-Martín · Instituto de Salud Carlos III

Antonio J. Martín-Galiano · Instituto de Salud Carlos III

Virginia Almadana-Pacheco · Hospital Universitario Virgen Macarena

Maria Jesús Cazorla

Abstract

Functional assays and protein structural information are useful tools in the characterization of novel variants of the SERPINA1 gene. The newly characterized mutations expand the number of SERPINA1 variants with proven pathogenic effects, facilitating the diagnoses of future cases of AATD.

Topics & Keywords

Protease and Inhibitor Mechanisms Cellular transport and secretion Blood Coagulation and Thrombosis Mechanisms

Publication Details

Published in: Respiratory Research

Volume 27, Issue 1

DOI: 10.1186/s12931-025-03486-1

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Functional and clinical significance of novel SERPINA1 variants on alpha-1 antitrypsin deficiency

Authors

Abstract

Topics & Keywords

Publication Details