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Article

The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes.

The European respiratory journal - 1 Dec 2020

Nakanishi Tomoko, Forgetta Vincenzo, Handa Tomohiro, Hirai Toyohiro, Mooser Vincent, Lathrop G Mark, Cookson William O C M, Richards J Brent

Abstract excerpt

Alpha-1 antitrypsin deficiency (AATD), mainly due to the PI*ZZ genotype in SERPINA1, is one of the most common inherited diseases. Since it is associated with a high disease burden and partially prevented by smoking cessation, identification of PI*ZZ individuals through genotyping could improve health outcomes.We examined the frequency of the PI*ZZ genotype in individuals with and without diagnosed AATD from UK...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32675199
DOI: 10.1183/13993003.01441-2020
PMCID: PMC7726845

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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