Fig. 4

Relative mRNA expression levels of the SPTB (A) and ANK1 (B) genes normalized to GAPDH. qRT-PCR analysis revealed significantly reduced SPTB expression in patients harboring c.5692 C > T and c.3823delG mutations (A). In contrast, the c.1994 C > A mutation in ANK1 did not affect gene expression (B).