Spectrum of mutations in Gitelman syndrome

Autor: Annabelle Venisse, Diana Kahila, Claire Rigothier, Bernard Grisart, Bruno Moulin, Marie-Christine Vantyghem, Ivan Tack, Anne-Paule Gimenez-Roqueplo, Franck Bridoux, Jean-Philippe Haymann, Olivier Devuyst, Hubert Nivet, Rosa Vargas-Poussou, Laurence Dubourg, Eva Riveira-Munoz, Anne Blanchard, Karin Dahan, Michel Godin, Pascal Houillier, Huguette Debaix, Bertrand Dussol, Robert J. Unwin, Xavier Jeunemaitre

Publikováno v: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, American Society of Nephrology, 2011, 22 (4), pp.693-703. 〈10.1681/ASN.2010090907〉
Journal of the American Society of Nephrology, American Society of Nephrology, 2011, 22 (4), pp.693-703. ⟨10.1681/ASN.2010090907⟩
Journal of the American Society of Nephrology; Vol 22

International audience; 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 patient

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https://hal.archives-ouvertes.fr/hal-00945691