1. A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification. Issue 8 (4th June 2018) Authors: Bignon, Yohan; Alekov, Alexi; Frachon, Nadia; Lahuna, Olivier; Jean‐Baptiste Doh‐Egueli, Carine; Deschênes, Georges; Vargas‐Poussou, Rosa; Lourdel, Stéphane Journal: Human mutation Issue: Volume 39:Issue 8(2018) Page Start: 1139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression. Issue 9 (12th June 2013) Authors: Keck, Mathilde; Andrini, Olga; Lahuna, Olivier; Burgos, Johanna; Cid, L. Pablo; Sepúlveda, Francisco V.; L'Hoste, Sébastien; Blanchard, Anne; Vargas‐Poussou, Rosa; Lourdel, Stéphane; Teulon, Jacques Journal: Human mutation Issue: Volume 34:Issue 9(2013:Sep.) Page Start: 1269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗