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