Article
Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease.
Human mutation - 1 Jan 2006
Chappell Sally, Daly Leslie, Morgan Kevin, Guetta Baranes Tamar, Roca Josep, Rabinovich Roberto, Millar Ann, Donnelly Seamas C, Keatings Vera, MacNee William, Stolk Jan, Hiemstra Pieter, Miniati Massimo, Monti Simonetta, O'Connor Clare M, Kalsheker Noor
Abstract excerpt
Chronic obstructive pulmonary disease (COPD) is a major cause of mortality and morbidity worldwide. While cigarette smoking is a major cause of COPD, only 15% of smokers develop the disease, indicating major genetic influences. The most widely recognized candidate gene in COPD is SERPINA1, although it has been suggested that SERPINA3 may also play a role. To detect cryptic genetic variants that might contribute...
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