| 1 | FBIS, SLC2A2
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| Mutations in SLC2A2 gene reveal hGLUT2 function in pancreatic β cell development.
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| Michau A, Guillemain G, Grosfeld A, Vuillaumier-Barrot S, Grand T, Keck M, L'Hoste S, Chateau D, Serradas P, Teulon J, De Lonlay P, Scharfmann R, Brot-Laroche E, Leturque A, Le Gall M.
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| J Biol Chem 288(43):31080-92. doi: 10.1074/jbc.M113.469189. Epub 2013 Aug 28.
2013
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| 2 | FBIS, SLC2A2
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| Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature.
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| Hadipour F, Sarkheil P, Noruzinia M, Hadipour Z, Baghdadi T, Shafeghati Y.
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| Indian J Hum Genet 19(1):84-6. doi: 10.4103/0971-6866.112906.
2013
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| 3 | FBIS, SLC2A2
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| Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
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| Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
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| J Clin Endocrinol Metab 97(10):E1978-86. doi: 10.1210/jc.2012-1279. Epub 2012 Aug 3.
2012
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| 4 | FBIS, SLC2A2
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| Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
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| Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R.
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| Mol Genet Metab 105(3):433-7. doi: 10.1016/j.ymgme.2011.11.200. Epub 2011 Dec 8.
2012
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| 5 | FBIS, SLC2A2
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| The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
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| Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J.
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| Hum Genet 110(1):21-9. 2002
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| 6 | FBIS, SLC2A2
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| A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.
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| Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW.
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| Hum Genet 105(3):240-3. 1999
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| 7 | FBIS, SLC2A2
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| Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
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| Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J.
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| Nat Genet 17(3):324-6. 1997
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