Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Bartter syndrome type 3 is a clinically heterogeneous hereditary salt-losing tubulopathy caused by mutations of the chloride voltage-gated channel Kb gene (CLCNKB), which encodes the ClC-Kb chloride channel involved in NaCl reabsorption in the renal tubule. To study phenotype/genotype correlations,...

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Vydáno v:J Am Soc Nephrol
Hlavní autoři: Seys, Elsa, Andrini, Olga, Keck, Mathilde, Mansour-Hendili, Lamisse, Courand, Pierre-Yves, Simian, Christophe, Deschenes, Georges, Kwon, Theresa, Bertholet-Thomas, Aurélia, Bobrie, Guillaume, Borde, Jean Sébastien, Bourdat-Michel, Guylhène, Decramer, Stéphane, Cailliez, Mathilde, Krug, Pauline, Cozette, Paul, Delbet, Jean Daniel, Dubourg, Laurence, Chaveau, Dominique, Fila, Marc, Jourde-Chiche, Noémie, Knebelmann, Bertrand, Lavocat, Marie-Pierre, Lemoine, Sandrine, Djeddi, Djamal, Llanas, Brigitte, Louillet, Ferielle, Merieau, Elodie, Mileva, Maria, Mota-Vieira, Luisa, Mousson, Christiane, Nobili, François, Novo, Robert, Roussey-Kesler, Gwenaëlle, Vrillon, Isabelle, Walsh, Stephen B., Teulon, Jacques, Blanchard, Anne, Vargas-Poussou, Rosa
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2017
Témata:
Clinical Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5533235/
https://ncbi.nlm.nih.gov/pubmed/28381550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2016101057
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