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Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka

✍ Scribed by Fukamachi, Shoji; Shimada, Atsuko; Shima, Akihiro

Book ID
109919650
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
259 KB
Volume
28
Category
Article
ISSN
1061-4036

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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.