Column 1: Positive control LAN-5 cell line;
Column 2: Healthy subjects (mean values of 5 children);
Column 3: Proband;
Column 4: Proband’s father.
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| Figure 1: A) The pedigree of family. The arrow points to the proband. B) WFS1 gene novel mutations in proband. Representative electropherograms from the
affected patient show heterozygous mutations in exon 5 (505G>A) and in exon 8 (1332C>G; 1631C>G). C) qRT-PCR of WFS1 mRNA normalized expression
against beta-actin in: Column 1: Positive control LAN-5 cell line; Column 2: Healthy subjects (mean values of 5 children); Column 3: Proband; Column 4: Proband’s father. |
