Article
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Journal of the American Society of Nephrology : JASN - 1 Nov 2003
Santer René, Kinner Martina, Lassen Christoph L, Schneppenheim Reinhard, Eggert Paul, Bald Martin, Brodehl Johannes, Daschner Markus, Ehrich Jochen H H, Kemper Markus, Li Volti Salvatore, Neuhaus Thomas, Skovby Flemming, Swift Peter G F, Schaub Jürgen, Klaerke Dan
Abstract excerpt
The role of SGLT2 (the gene for a renal sodium-dependent glucose transporter) in renal glucosuria was evaluated. Therefore, its genomic sequence and its intron-exon organization were determined, and 23 families with index cases were analyzed for mutations. In 21 families, 21 different SGLT2 mutations were detected. Most of them were private; only a splice mutation was found in 5 families of different ethnic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.