A pseudo-dominant form of Gitelman’s syndrome

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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Bibliographic Details
Main Authors: de La Faille, Renaud, Vallet, Marion, Venisse, Annabelle, Nau, Valérie, Collet-Gaudillat, Carole, Houillier, Pascal, Jeunemaitre, Xavier, Vargas-Poussou, Rosa
Format: Online
Language:English
Published: Oxford University Press 2011
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668/

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