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Article

Analysis of exonic elastin variants in severe, early-onset chronic obstructive pulmonary disease.

American journal of respiratory cell and molecular biology - 1 Jun 2009

Cho Michael H, Ciulla Dawn M, Klanderman Barbara J, Hersh Craig P, Litonjua Augusto A, Sparrow David, Raby Benjamin A, Silverman Edwin K

Abstract excerpt

The destruction of elastic fibers has been implicated in the pathogenesis of chronic obstructive pulmonary disease (COPD). Emphysema has been described in autosomal dominant cutis laxa, which can be caused by mutations in the elastin gene. Previously, a rare functional mutation in the terminal exon of elastin was found in a case of severe, early-onset COPD. To test the hypothesis that other similar elastin...

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Identifiers

PMID: 19029017
DOI: 10.1165/rcmb.2008-0340OC
PMCID: PMC2689920

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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