Concepedia

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

Daniella Magen, Eli Sprecher, Israel Zelikovic, Karl Skorecki

Kidney International · 2004 · 116 citations · 25 references

DOIFull text

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References

25

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

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The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

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Nelson Textbook of Pediatrics

Norman J. Sissman · JAMA · 2000 · 872 citations

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The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose.

Y. Kanai, W S Lee, Dennis Brown et al. · Journal of Clinical Investigation · 1994 · 624 citations · Full text

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Hepatocyte Nuclear Factor 1 Inactivation Results in Hepatic Dysfunction, Phenylketonuria, and Renal Fanconi Syndrome

Marco Pontoglio, Jacqueline Barra, Michelle Hadchouel et al. · Cell · 1996 · 584 citations · Full text

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