What can naturally occurring mutations tell us about the pathogenesis of COPD?

Abstract excerpt

The airway and emphysema phenotypes of chronic obstructive pulmonary disease (COPD) cluster in susceptible families. Some of this clustering is likely to be the result of shared genetic factors. There are a number of relatively rare syndromes that predispose to COPD, and a growing number of association and linkage studies that have assessed the genetic factors that predispose smokers to airflow obstruction. A...

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