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Mutaciones.
| Mutación | Tipo de mutación | Frecuencia alélica | |
|---|---|---|---|
| Paciente 1 (Becker) | c.180+3A>T | Splice-site | 0,000297 |
|
| |||
| c.824T>C | Missense | No descrita | |
|
| |||
| Paciente 2 (Becker) | c.180+3A>T | Splice-site | 0,000297 |
|
| |||
| c.1488 G>T | Missense | 0,0000159 | |
|
| |||
| Paciente 3 (Becker) | c.180+3A>T | Splice-site | 0,000297 |
|
| |||
| c.1488 G>T | Missense | 0,0000159 | |
|
| |||
| Paciente 4 (Thomsen) | c.180+3A>T | Splice-site | 0,000297 |
|
| |||
| Paciente 5 (Thomsen) | – | – | – |
Missense: cambio de sentido; Splice site: sitio de empalme.
