Analysis of Exonic Elastin Variants in Severe, Early-Onset Chronic Obstructive Pulmonary Disease

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...

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Bibliographische Detailangaben
Hauptverfasser: Cho, Michael H., Ciulla, Dawn M., Klanderman, Barbara J., Hersh, Craig P., Litonjua, Augusto A., Sparrow, David, Raby, Benjamin A., Silverman, Edwin K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Thoracic Society 2009
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2689920/
https://ncbi.nlm.nih.gov/pubmed/19029017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2008-0340OC
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