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Identification of novel mutations in Na-Cl cotransporter gene in a Korean patient with atypical Gitelman’s syndrome

✍ Scribed by Tae-Hyun Yoo; Sang-Ho Lee; KyungSik Yoon; HaengWoon Baek; Joo-Ho Chung; TaeWon Lee; ChunGyoo Ihm; MyungJae Kim

Book ID
114466439
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
118 KB
Volume
42
Category
Article
ISSN
0272-6386

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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 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

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 Syrén; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo C 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 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.