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
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