THOMAS , Annick

Diffuse bronchiectasis is a common problemin respiratory clinics. We hypothesized that mutations inthe solute carrier 26A9 (SLC26A9) gene, encoding for achloride (Cl−) transporter mainly expressed in lungs, maylead to defects in mucociliary clearance. We describe twomissense variants in theSLC26A9gene in heterozygotepatients presenting with...