Article

Identification of novel compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman's syndrome exhibiting Bartter's syndrome-liked phenotypes

2020-04-03

Abstract excerpt

<h4>Background: </h4> Gitelman's syndrome (GS) is a rare salt-losing renal tubular disorder associated with SLC12A3 gene mutations, which encodes the Na-Cl co-transporter (NCCT). GS is characterized by hypokalaemic metabolic alkalosis, hypomagnesemia, hypocalciuria and elevated renin-angiotensin-aldosterone (RAA) level. The variability of phenotypes is likely to be associated with the variety of SLC12A3 mutations....

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Literature Corpus work: c6070ecc-205b-5fab-a8e3-f20fda6ac2d8
DOI: 10.21203/rs.3.rs-20998/v1

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