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

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

ObjectiveType 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 Chines...

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Bibliographic Details
Main Authors: Chunli Wang, Yuan Han, Jiaran Zhou, Bixia Zheng, Wei Zhou, Huaying Bao, Zhanjun Jia, Aihua Zhang, Songming Huang, Guixia Ding, Fei Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Genetics
Subjects:
classical Bartter syndrome
CLCNKB
synonymous variant
abnormal RNA splicing
hypokalemia
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00081/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00081/full

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