Article
Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome.
Human mutation - 1 Jul 2002
Syrén Marie-Louise, Tedeschi Silvana, Cesareo Laila, Bellantuono Rosa, Colussi Giacomo, Procaccio Mirella, Alì Anna, Domenici Raffaele, Malberti Fabio, Sprocati Monica, Sacco Michele, Miglietti Nunzia, Edefonti Alberto, Sereni Fabio, Casari Giorgio, Coviello Domenico A, Bettinelli Alberto
Abstract excerpt
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 searched for SLC12A3 gene mutations in 21 Italian patients with the clinical and biochemical features of GS (hypokalemia,...
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