Table 1
Results of mutation analysis undertaken in 11 female heterozygotes with Fabry disease
Patient
Genotype
1
R342X
2
Not found
3
D313Y + G411D
4
S78X
5
N224D
6
R227X
7
R227X
8
R227X
9
R227X
10
1033 del Tec
11
S78X