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GLA gene mutations in women with FD (n = 35).
| Mutation | All (n, %) | Adults | Pediatrics |
|---|---|---|---|
| E398X | 14 (40.0) | 8 | 6 |
| p.L415P | 11 (31.4) | 4 | 7 |
| A292T | 4 (11.4) | 4 | - |
| c.680G>A | 3 (8.5) | 3 | - |
| del 3&4 exons | 1 (2.9) | 1 | - |
| p.W81X | 1 (2.9) | 1 | - |
| p.R301Q | 1 (2.9) | 1 | - |
|
| |||
| Total | 35 (100) | 22 | 13 |
