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
Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.657040
Abstract: Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are two subtypes of muscular dystrophy diseases caused by pathogenic mutations in the DMD gene. Until now, more than 4,600 disease-causing mutations in DMD have… read more here.
Keywords: dmd; intronic mutations; mutations introduce; novel intronic ... See more keywords