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Frequencies of genotype presentations of Fabry participants
| Genotype | Fabry disease |
||
|---|---|---|---|
| Males, n = 12 | Females, n = 5 | Total, n = 17 | |
| p.N215S | 2 | 1 | 3 |
| c.931DELC | 1 | 1 | 2 |
| prop.Y365X | 2 | 2 | |
| c.988DELC | 1 | 1 | |
| g.IVS4+861C>T | 1 | ||
| p.M187I | 1 | 1 | |
| p.N298K | 1 | 1 | |
| p.A156T | 1 | 1 | |
| p.C223Y | 1 | 1 | |
| p.Q111X | 1 | 1 | |
| p.R220X | 1 | 1 | |
| Pending | 1 | 1 | 2 |
