Allele-specific RT-PCR for the rapid detection of recurrent SLC12A3 mutations for Gitelman syndrome

Abstract Recurrent mutations in the SLC12A3 gene responsible for autosomal recessive Gitelman syndrome (GS) are frequently reported, but the exact prevalence is unknown. The rapid detection of recurrent SLC12A3 mutations may help in the early diagnosis of GS. This study was aimed to investigate the...

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Bibliographic Details

Published in:	npj Genomic Medicine
Main Authors:	Ming-Tso Yan, Sung-Sen Yang, Min-Hua Tseng, Chih-Jen Cheng, Jeng-Daw Tsai, Chih-Chien Sung, Yu-Juei Hsu, Shih-Hua Lin
Format:	Article
Language:	English
Published:	Nature Portfolio 2021-08-01
Online Access:	https://doi.org/10.1038/s41525-021-00230-8