Figure 5.

cDNA Level of XYLT1 in Controls and Two Cultured Individual Fibroblasts

cDNA levels were normalized to GAPDH. Individuals p.Arg147^∗ and p.Pro93Alafs^∗69 are female aged 14 and male aged 23 years, respectively. Control 1 (female) and 2 (male) are aged 2.5 and 12 years, respectively. Control (black boxes) and individual (gray boxes) data are presented as box plots and are the mean of three independent experiments performed in quadruplate. ##p < 0.01, ###p < 0.001 compared to control 1, ^∗∗∗p < 0.001 compared to control 2 by one-way ANOVA with Tukey’s post hoc test.

Note that mutations in XYLT1 affect cDNA level of XYLT1.