Splicing Characterization of CLCNKB Variants in Four Patients With Type III Bartter Syndrome

OBJECTIVE: Type III Bartter syndrome (BS) is caused by loss-of-function mutations in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), and is characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here, we investigated the molecular defects in four Chin...

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Gepubliceerd in:Front Genet
Hoofdauteurs: Wang, Chunli, Han, Yuan, Zhou, Jiaran, Zheng, Bixia, Zhou, Wei, Bao, Huaying, Jia, Zhanjun, Zhang, Aihua, Huang, Songming, Ding, Guixia, Zhao, Fei
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2020
Onderwerpen:
Genetics
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7047732/
https://ncbi.nlm.nih.gov/pubmed/32153641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00081
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