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A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome
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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177689/ https://www.ncbi.nlm.nih.gov/pubmed/28018459 http://dx.doi.org/10.3345/kjp.2016.59.11.S103 |