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Alpha-1 antitrypsin deficiency hidden in allegedly normal variants.

The Journal of asthma : official journal of the Association for the Care of Asthma - 1 Jul 2022

Suárez-Lorenzo Isadora, Hernández-Brito Elisa, Almeida-Quintana Lourdes, Llanos Cesar García-de, González-Quevedo Nereida, Carrillo-Díaz Teresa, Rodríguez-Gallego Carlos

Abstract excerpt

INTRODUCTION: Rare variants of Alpha-1 antitrypsin (AAT) deficiency (AATD) have been described by the Spanish registry of patients with AATD. The great majority of these rare variants are Mmalton alleles and many recent case series of them have been identified in the Canary Islands. The objective of this study was to analyze the distribution of Mmalton mutations in a Canarian population previously studied for the...

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PMID: 34152895
DOI: 10.1080/02770903.2021.1944186

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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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