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Article

Description of alpha-1-antitrypsin deficiency associated with PI*Q0ourém allele in La Palma Island (Spain) and a genotyping assay for its detection.

Archivos de bronconeumologia - 1 Jan 2015

Hernández Pérez José María, Ramos Díaz Ruth, Fumero García Sergio, Pérez Pérez José Antonio

Abstract excerpt

By analysis of a case of discrepancy between serum alpha-1-antitrypsin (AAT) level and genotype for the most common defective alleles associated with AAT deficiency (PI*S and PI*Z), a patient carrying the allele PI*Q0ourém has been identified for the first time outside of Portugal. This null alle...

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Source

Identifiers

PMID: 24673984
DOI: 10.1016/j.arbres.2014.01.011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24673984-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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