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 exon 3 of <i>SLC2A2</i> for family (1) showed the following (a) For patient, two bases (GA) were deleted in a homozygous pattern (c.253_254delGA). (b) Individuals 1101, 1201, 1202, 1203, 1204, 1206, and 1301 were heterozygous, for the above deletion (c.253_254delGA). (c) Individuals 1104, 1205, and 1303 were homozygous normal (mutation c.253_254delGA is not found).</table>

Case Reports in Nephrology

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Figure 1

Figure 1: 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 1 | Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families 