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Article

Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis.

Pulmonology - 1 Jan 2000

Hernández-Pérez J M, Ramos-Díaz R, Vaquerizo-Pollino C, Pérez J A

Abstract excerpt

BACKGROUND AND OBJECTIVE: Alpha-1 antitrypsin deficiency (AATD) is an underdiagnosed hereditary condition that promotes the development of lung and liver diseases, and the most common potentially life-threatening genetic condition in Caucasian adults. In this study, the clinical and genetic profile of pulmonary patients from a single center in La Palma Island (Canary Islands, Spain) was assessed to predict how to...

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PMID: 35346640
DOI: 10.1016/j.pulmoe.2022.01.017

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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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