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Identification of a novel R642C mutation in NA/CL cotransporter with Gitelman's syndrome

✍ Scribed by Kensei Yahata; Issei Tanaka; Masato Kotani; Masashi Mukoyama; Yoshihiro Ogawa; Masahisa Goto; Masayo Nakagawa; Akira Sugawara; Kiyoshi Tanaka; Akira Shimatsu; Kazuwa Nakao


Book ID
117444314
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
114 KB
Volume
34
Category
Article
ISSN
0272-6386

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πŸ“œ SIMILAR VOLUMES


Identification of fifteen novel mutation
✍ 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
✍ 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.