Spectrum of Mutations in Gitelman Syndrome

Gitelman's syndrome (GS) is a rare, autosomal recessive, salt-losing tubulopathy caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive NaCl cotransporter (NCC). Because 18 to 40% of suspected GS patients carry only one SLC12A3 mutant allele, large genomic rearrangements...

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Detalles Bibliográficos
Autores principales: Vargas-Poussou, Rosa, Dahan, Karin, Kahila, Diana, Venisse, Annabelle, Riveira-Munoz, Eva, Debaix, Huguette, Grisart, Bernard, Bridoux, Franck, Unwin, Robert, Moulin, Bruno, Haymann, Jean-Philippe, Vantyghem, Marie-Christine, Rigothier, Claire, Dussol, Bertrand, Godin, Michel, Nivet, Hubert, Dubourg, Laurence, Tack, Ivan, Gimenez-Roqueplo, Anne-Paule, Houillier, Pascal, Blanchard, Anne, Devuyst, Olivier, Jeunemaitre, Xavier
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Nephrology 2011
Materias:
Basic Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3065225/
https://ncbi.nlm.nih.gov/pubmed/21415153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2010090907
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