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Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3.

Endocrine - 1 Apr 2020

Han Yue, Cheng Hai, Shao Shihong, Lang Yanhua, Zhao Xiangzhong, Lin Yi, Wang Sai, Shi Xiaomeng, Liu Zhiying, Shao Leping

Abstract excerpt

PURPOSE: Analyze the genotype of 42 Chinese patients with Bartter syndrome type 3 (BS3) and investigate their correlation between genotype and phenotype. METHODS: Identify CLCNKB gene variants by the next-generation sequencing and the multiplex ligation-dependent probe amplification (MLPA), and then evaluate their mutation effects according to 2015 American College of Medical Genetics and Genomics (ACMG)...

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PMID: 31834604
DOI: 10.1007/s12020-019-02156-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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