Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Figure 5

Sanger sequencing plot of GLB1 showing the p.Arg201Cys mutation at heterozygous state in the father IV.1, the mother IV.2, and her sister IV.3 (a) and at homozygous state in patients V.1, V.2, and V.3 (b). EXOSC8 p.Ser272Thr mutation at heterozygous state found in patients V.1, V.2, and V.3, theirs mother IV.2, and their aunt IV.3 (c). Arrows indicate mutation positions.

(a)

(b)

(c)