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
Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Scandinavian journal of clinical and laboratory investigation"
DOI: 10.1080/00365513.2021.1989715
Abstract: Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS). This study aimed to investigate the genetic mutations and clinical features of patients with GS. Four pedigrees (4 GS patients and 14… read more here.
Keywords: novel mutations; mutations slc12a3; slc12a3 gene; gene ... See more keywords
A case report of Gitelman syndrome in children
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000033509
Abstract: Rationale: Giltelman syndrome (GS) is an autosomal recessive infectious disease, which is caused by the mutation of SLC12A3 gene encoding thiazide diuretic sensitive sodium chloride cotransporter located in the distal convoluted tubule of the kidney.… read more here.
Keywords: potassium; mmol; slc12a3 gene; patient ... See more keywords
Novel SLC12A3 gene mutations and clinical characteristics in two pedigrees with Gitelman syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical endocrinology"
DOI: 10.1111/cen.14870
Abstract: OBJECTIVE Gitelman syndrome (GS) is an autosomal recessive tubulopathy resulting from inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). To date, more than 500 mutations have been identified in the… read more here.
Keywords: slc12a3 gene; novel slc12a3; two pedigrees; gitelman syndrome ... See more keywords
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
Sign Up to like & getrecommendations! Published in 2017 at "BMC Nephrology"
DOI: 10.1186/s12882-017-0563-0
Abstract: BackgroundGitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney.Case presentationIn this report, we describe two siblings from… read more here.
Keywords: sri lankan; novel mutation; family; slc12a3 gene ... 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
Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of General Medicine"
DOI: 10.2147/ijgm.s408631
Abstract: Aim Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients… read more here.
Keywords: mutations slc12a3; intronic mutations; slc12a3 gene; gitelman syndrome ... See more keywords