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Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sens...

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Detalhes bibliográficos
Main Authors: Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3283182/
https://ncbi.nlm.nih.gov/pubmed/22009145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.189
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