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Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome

✍ Scribed by LING QIN; LEPING SHAO; HONG REN; WEIMING WANG; XIAOXIA PAN; WEN ZHANG; ZHAOHUI WANG; PINGYAN SHEN; NAN CHEN

Book ID
108960595
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
193 KB
Volume
14
Category
Article
ISSN
1320-5358

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πŸ“œ 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 SyrΓ©n; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo C πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 162 KB πŸ‘ 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

Erratum: Identification of fifteen novel
Erratum: Identification of fifteen novel mutations in the SLC12A3 gene encoding the Na-Cl co-transporter in Italian patients with Gitelman syndrome
✍ Marie-Louise SyrΓ©n; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo C πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 102 KB πŸ‘ 1 views

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.