Fig. 5

Sanger sequencing profile of our patients showing: a homozygous substitution c.1088G > A [p.Arg363Gln] mutation compared to a healthy control; b non-pathogenic variant c.300 + 3A > G at the homozygous state compared to a healthy control
Sanger sequencing profile of our patients showing: a homozygous substitution c.1088G > A [p.Arg363Gln] mutation compared to a healthy control; b non-pathogenic variant c.300 + 3A > G at the homozygous state compared to a healthy control