Molecular Analysis of the CLCNKB Gene in Japanese Patients with Classic Bartter Syndrome

Deletions or mutations in the gene encoding the basolateral chloride channel CLC-Kb (CLCNKB) cause classic Bartter syndrome (MIM 602023), which is characterized by hypokalemic metabolic alkalosis, hyperreninemic hyperaldosteronism and hypercalciura. These patients are usually diagnosed during infanc...

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Veröffentlicht in:	Endocrine Journal 2006, Vol.53(5), pp.647-652
Hauptverfasser:	TAJIMA, Toshihiro, NAWATE, Mitsuru, TAKAHASHI, Yutaka, MIZOGUCHI, Yumiko, SUGIHARA, Shigetaka, YOSHIMOTO, Masaaki, MURAKAMI, Mutsumi, ADACHI, Masanori, TACHIBANA, Katsuhiko, MOCHIZUKI, Hiroshi, FUJIEDA, Kenji
Format:	Artikel
Sprache:	eng
Schlagworte:	Asian Continental Ancestry Group - genetics Bartter Syndrome - genetics Child, Preschool Chloride Channels - genetics CLCNKB DNA Mutational Analysis Humans Hypokalemia Infant Mutation Novel mutation W610X
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