Article
Abnormal expression and dysfunction of novel SGLT2 mutations identified in familial renal glucosuria patients.
Human genetics - 1 Mar 2011
Yu Lei, Lv Ji-Cheng, Zhou Xu-jie, Zhu Li, Hou Ping, Zhang Hong
Abstract excerpt
Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal serum glucose and in the absence of overt tubular dysfunction. Mutation of sodium/glucose co-transporter 2 (SGLT2) has been identified and was recently reported to be involved in FRG. However, the functional and pathological consequences of such mutations remain unknown. In the current study, we collected four families with...
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