A novel compound heterozygous mutation of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Endocrine"
DOI: 10.1007/s12020-019-02152-z
Abstract: Purpose Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by salt wasting and hypokalemia resulting from loss-of-function mutations in the solute carrier family 12A3 (SLC12A3) gene encoding the thiazide-sensitive NaCl cotransporter (NCC).… read more here.
Keywords: slc12a3; slc12a3 gene; mutation slc12a3; gitelman syndrome ... See more keywords
Gitelman syndrome caused by a rare homozygous mutation in the SLC12A3 gene: A case report
Sign Up to like & getrecommendations! Published in 2020 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v8.i18.4252
Abstract: BACKGROUND Gitelman syndrome (GS) is an unusual, autosomal recessive salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. It is caused by mutations in the solute carrier family 12 member 3 (SLC12A3) gene resulting… read more here.
Keywords: rare homozygous; homozygous mutation; slc12a3 gene; gene ... See more keywords