Article
Characterization of SLC26A9 in patients with CF-like lung disease.
Human mutation - 1 Oct 2013
Bakouh Naziha, Bienvenu Thierry, Thomas Annick, Ehrenfeld Jordi, Liote Huguette, Roussel Delphine, Duquesnoy Philippe, Farman Nicolette, Viel Marion, Cherif-Zahar Baya, Amselem Serge, Taam Rola Abou, Edelman Aleksander, Planelles Gabrielle, Sermet-Gaudelus Isabelle
Abstract excerpt
Diffuse bronchiectasis is a common problem in respiratory clinics. We hypothesized that mutations in the solute carrier 26A9 (SLC26A9) gene, encoding for a chloride (Cl(-)) transporter mainly expressed in lungs, may lead to defects in mucociliary clearance. We describe two missense variants in the SLC26A9 gene in heterozygote patients presenting with diffuse idiopathic bronchiectasis : p.Arg575Trp, identified in...
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