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Article

Alpha-1-antitrypsin deficiency associated with the Mattawa variant.

Archivos de bronconeumologia - 1 Dec 2013

Lara Beatriz, Martínez-Delgado Beatriz, Torres Maria Luisa, Marín-Arguedas Sandra, Bustamante Ana, Miravitlles Marc

Abstract excerpt

The most common deficiency alleles for alpha-1-antitrypsin deficiency (AATD) are Pi*S and Pi*S, but there are also other deficiency variants. This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI*M, and a...

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Identifiers

PMID: 24183282
DOI: 10.1016/j.arbres.2013.05.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24183282-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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