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Article

Spectrum of variants in a large Chinese Gitelman syndrome cohort.

Clinical genetics - 1 Dec 2023

Mou Lijun, Tang Mengyue, Zhu Lina, Lin Wanbing, Gu Ying

Abstract excerpt

Gitelman syndrome (GS) is caused by SLC12A3 biallelic variants. A previous study showed that large rearrangements (LRGs) of SLC12A3 accounted for the low sensitivity of genetic testing. However, a systematic screening for LRGs in Chinese GS patients is lacking. Massively parallel sequencing (MPS) and multiplex ligation-dependent probe amplification (MLPA) were performed to sequence the genomic DNA of patients...

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PMID: 37702302
DOI: 10.1111/cge.14422

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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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