• Thorax · Mar 2004

    Review

    Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk.

    • D L DeMeo and E K Silverman.
    • Channing Laboratory and Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02446, USA. demeo@channing.harvard.edu
    • Thorax. 2004 Mar 1;59(3):259-64.

    AbstractThe genetic aspects of AAT deficiency and the variable manifestations of lung disease in PI Z individuals are reviewed. The role of modifying genetic factors which may interact with environmental factors (such as cigarette smoking) is discussed, and directions for future research are presented.

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