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Article

Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.

International journal of molecular sciences - 30 Aug 2022

Barzon Valentina, Ottaviani Stefania, Balderacchi Alice Maria, Corino Alessandra, Piloni Davide, Accordino Giulia, Coretti Manuela, Mariani Francesca, Corsico Angelo Guido, Ferrarotti Ilaria

Abstract excerpt

Alpha1-antitrypsin (AAT) is a serine protease inhibitor that is encoded by the highly polymorphic SERPINA1 gene. Mutations in this gene can lead to AAT deficiency (AATD), which is associated with an increased risk of lung and/or liver disease. On the basis of electrophoretic migration, AAT variants are named with capital letters; M (medium) signifies the normal protein. Among pathological variants, the M-like...

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Identifiers

PMID: 36077263
DOI: 10.3390/ijms23179859
PMCID: PMC9456480

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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