✦ LIBER ✦

Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome

✍ Scribed by Marie-Louise Syrén; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo Colussi; Mirella Procaccio; Anna Alì; Raffaele Domenici; Fabio Malberti; Monica Sprocati; Michele Sacco; Nunzia Miglietti; Alberto Edefonti; Fabio Sereni; Giorgio Casari; Domenico A. Coviello; Alberto Bettinelli

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 102 KB
Volume: 20
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9064

No coin nor oath required. For personal study only.

✦ Synopsis

The authors regret that there was an error in Table 2 on Page 3 of the original article. In patient 2, the substitution 2979C>T is not correct. It should be 2979G>A, just as found in patient 12 who has the identical mutation.

📜 SIMILAR VOLUMES

Identification of fifteen novel mutation

Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl Co-transporter in Italian patients with Gitelman syndrome

✍ Marie-Louise Syrén; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo C 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB 👁 1 views

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