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Diagnosis of a case of Gitelman’s syndrome based on renal clearance studies and gene analysis of a novel mutation of the thiazide-sensitive Na-Cl cotransporter

✍ Scribed by Kageyama, K.; Terui, K.; Shoji, M.; Tsutaya, S.; Matsuda, E.; Sakihara, S.; Nigawara, T.; Moriyama, T.; Yasujima, M.; Suda, T.


Book ID
125337433
Publisher
Springer-Verlag
Year
2005
Tongue
English
Weight
281 KB
Volume
28
Category
Article
ISSN
0391-4097

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Generation and analysis of the thiazide-
✍ Sung-Sen Yang; Yi-Fen Lo; I-Shing Yu; Shu-Wha Lin; Tai-Hsiang Chang; Yu-Juei Hsu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 660 KB

Gitelman syndrome (GS) is characterized by salt-losing hypotension, hypomagnesemia, hypokalemic metabolic alkalosis, and hypocalciuria. To better model human GS caused by a specific mutation in the thiazidesensitive Na 1 -Cl À cotransporter (NCC) gene SLC12A3, we generated a nonsense Ncc Ser707X kno