Table 1. Synopsis of alpha-galactosidase gene mutations in 14 patients included in the study.
Mutation | Patients |
c.424>C [C142R] | Patient 1 |
c.514T>G [C172G] | Patient 2 |
c.994dupA [p.Arg332Lysfs*7] | Patient 3 |
c.755G>C [R252T] | 1 female, 2 males |
c.376A>G [S126G] | 2 females, 2 males |
c.1025G>A [R342Q] | 1 female, 1 male |
c.416A>G [N139S] | 1 female |
c.376A>G [s126G] | 1 female |