Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

1. Sánchez-Iglesias, S.
2. Crocker, M.
3. O’Callaghan, M.
4. Darling, A.
5. García-Cazorla, A.
6. Domingo-Jiménez, R.
7. Castro, A.
8. Fernández-Pombo, A.
9. Ruibal, A.
10. Aguiar, P.
11. Garrido-Pumar, M.
12. Rodríguez-Núñez, A.
13. Álvarez-Escudero, J.
14. Brown, R.J.
15. Araújo-Vilar, D.