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Article

Undetected mutations across different serum alpha1 antitrypsin thresholds: An analysis of the avatar cohort.

Pulmonology - 1 Dec 2026

Lopez-Campos Jose Luis, Muñoz-Sánchez Belén, Fernandez Boza Alba, Quintana-Gallego Esther

Abstract excerpt

BACKGROUND: The optimal serum alpha-1 antitrypsin (AAT) cut-off for prompting genotyping in alpha-1 antitrypsin deficiency (AATD) remains debated, with limited data on mutations missed at different thresholds. This study assessed the frequency and spectrum of mutations potentially overlooked when applying varying serum AAT values. METHODS: Data were analysed from the Andalusian Valuable and Transdisciplinary AATD...

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Identifiers

PMID: 41914144
DOI: 10.1080/25310429.2026.2652160

Genes

SERPINA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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