Article
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
Human genetics - 1 Dec 2002
van den Heuvel L P, Assink K, Willemsen M, Monnens L
Abstract excerpt
Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for...
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