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Article

Rare alpha-1-antitrypsin variants: are they really so rare?

Therapeutic advances in respiratory disease - 1 Apr 2012

Rodriguez-Frias Francisco, Miravitlles Marc, Vidal Rafael, Camos Silvia, Jardi Rosendo

Abstract excerpt

Alpha-1-antitrypsin (α1-AT) deficiency is mainly evaluated in the diagnostic process of chronic obstructive pulmonary disease (COPD). Around 95% of individuals with severe α1-AT deficiency carry the PI*ZZ genotype. Little is known about the epidemiology of the remaining deficient α1-AT variants, which are called 'rare' due to their low prevalence. The retrospective revision of 3511 α1-AT deficiency determinations...

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PMID: 22291048
DOI: 10.1177/1753465811434320

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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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