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

✍ Scribed by 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

Book ID: 121710304
Publisher: Nature Publishing Group
Year: 2011
Tongue: English
Weight: 579 KB
Volume: 20
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2011.189

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The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searche

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