Fanconi Bickel Syndrome: Novel Mutations in <i>GLUT 2</i> Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families

<table>Sequencing of intron5 of <i>SLC2A2</i> for family two showed: (a) For patient, there is G-to-C substitution at position-1 of the splicing acceptor site in a homozygous pattern (c.776-1G&gt;C or IVS5-1G&gt;A). (b) Individuals 2102, 2104, 2201, 2202 and 2204 were heterozygous for c.776-1G&gt;C mutation. (c) Individuals 2101, 2103, and 2203 did not show this mutation.</table>

Case Reports in Nephrology

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Figure 3: Fanconi Bickel Syndrome: Novel Mutations in <i>GLUT 2</i> Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families 

Figure 3 | Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families 