Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2 - Dinour, D.; Gray, N. K.; Ganon, L.; Knox, A. J. S.; Shalev, H.; Sela, B.-A.; Campbell, S.; Sawyer, L.; Shu, X.; Valsamidou, E.; Landau, D.; Wright, A. F.; et al. (Nephrology, dialysis, transplantation, 2012)
Keywords: Adult; Aged, 80 and over; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Animals; Associated diseases and complications; Biological and medical sciences; Child; Child, Preschool; Diabetes. Impaired glucose tolerance; Emergency and intensive care: renal failure. Dialysis management; Endocrine pancreas. Apud cells (diseases); Endocrinopathies; Female; Glucose Transport Proteins, Facilitative - genetics; Homozygote; Humans; Intensive care medicine; Male; Medical sciences; Models, Molecular; Molecular Dynamics Simulation; Mutation - genetics; Pedigree; Renal Tubular Transport, Inborn Errors - blood; Renal Tubular Transport, Inborn Errors - genetics; Uric Acid - blood; Urinary Calculi - blood; Urinary Calculi - genetics; Xenopus laevis - genetics; Xenopus laevis - metabolism; Young Adult; Kidney disease; Urinary system disease; Hemodialysis; Metabolic diseases; Uric acid; Homozygosity; Enzymopathy; SLC2A9; Extrarenal dialysis; URAT1; Renal failure; GLUT9; hereditary renal hypouricemia; Purine; Hypouricemia; Mutation