A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

1. Ferrer-Cortès, X.
2. Narbona, J.
3. Bujan, N.
4. Matalonga, L.
5. Del Toro, M.
6. Arranz, J.A.
7. Riudor, E.
8. Garcia-Cazorla, A.
9. Jou, C.
10. O'Callaghan, M.
11. Pineda, M.
12. Montero, R.
13. Arias, A.
14. García-Villoria, J.
15. Alston, C.L.
16. Taylor, R.W.
17. Briones, P.
18. Ribes, A.
19. Tort, F.