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. 2014 Mar 13;9(3):e91757. doi: 10.1371/journal.pone.0091757

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