A Chinese Girl with Bartter Syndrome Type III due to a Novel Mutation and/or Single Nucleotide Polymorphisms (SNPs) in CLCNKB Gene

BACKGROUND: Bartter's syndrome is a heterogeneous disorder characterized by deficient renal reabsorption of sodium and chloride, and hypokalemic metabolic alkalosis with hyper-reninemia and hyperaldosteronemia. Bartter syndrome type III (BS type III), due to mutations in the CLCNKB gene, is hig...

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Detalles Bibliográficos
Autores principales: Wang, Xiumin, Shen, Zheng, Xu, Meichun, Fu, Junfen, Liang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3574998/
https://www.ncbi.nlm.nih.gov/pubmed/23550235

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