A pseudo-dominant form of Gitelman’s syndrome

Gitelman’s syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over two generations suggesting a dominant transmission. Af...

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Detalles Bibliográficos
Autores principales: de La Faille, Renaud, Vallet, Marion, Venisse, Annabelle, Nau, Valérie, Collet-Gaudillat, Carole, Houillier, Pascal, Jeunemaitre, Xavier, Vargas-Poussou, Rosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
II. Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668/
https://www.ncbi.nlm.nih.gov/pubmed/25984200
http://dx.doi.org/10.1093/ndtplus/sfr094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668/
https://www.ncbi.nlm.nih.gov/pubmed/25984200
http://dx.doi.org/10.1093/ndtplus/sfr094

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