A novel mutation of in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome

• Asıl Yazarlar: Hee-Won Cho (Yazar), Sang Taek Lee (Yazar), Heeyeon Cho (Yazar), Hae Il Cheong (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Korean Pediatric Society, 2016-11-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of pat...