Articles with "gene patients" as a keyword



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Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome.

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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