Article
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?
Clinical genetics - 1 Jun 2004
Casals T, De-Gracia J, Gallego M, Dorca J, Rodríguez-Sanchón B, Ramos M D, Giménez J, Cisteró-Bahima A, Olveira C, Estivill X
Abstract excerpt
While all patients with cystic fibrosis (CF) have mutations in both CFTR alleles, often only one CFTR change is detected in patients with other lung disorders. The aim of this study was to investigate whether heterozygosity for CFTR mutations could be a determinant risk factor in the development of bronchiectasis in adult patients. We have performed the CFTR gene analysis in a cohort of 55 bronchiectasis adult...
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