Ontology highlight
ABSTRACT:
SUBMITTER: Seys E
PROVIDER: S-EPMC5533235 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Seys Elsa E Andrini Olga O Keck Mathilde M Mansour-Hendili Lamisse L Courand Pierre-Yves PY Simian Christophe C Deschenes Georges G Kwon Theresa T Bertholet-Thomas Aurélia A Bobrie Guillaume G Borde Jean Sébastien JS Bourdat-Michel Guylhène G Decramer Stéphane S Cailliez Mathilde M Krug Pauline P Cozette Paul P Delbet Jean Daniel JD Dubourg Laurence L Chaveau Dominique D Fila Marc M Jourde-Chiche Noémie N Knebelmann Bertrand B Lavocat Marie-Pierre MP Lemoine Sandrine S Djeddi Djamal D Llanas Brigitte B Louillet Ferielle F Merieau Elodie E Mileva Maria M Mota-Vieira Luisa L Mousson Christiane C Nobili François F Novo Robert R Roussey-Kesler Gwenaëlle G Vrillon Isabelle I Walsh Stephen B SB Teulon Jacques J Blanchard Anne A Vargas-Poussou Rosa R
Journal of the American Society of Nephrology : JASN 20170405 8
Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (<i>CLCNKB</i>), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations, we performed genetic analyses by direct sequencing and multiplex ligation-dependent probe amplification and retrospectively analyzed medical charts for 115 patients with <i>CLCNKB</i> mutations ...[more]