Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

1. Navarro-Sastre, A.
2. Martín-Hernández, E.
3. Campos, Y.
4. Quintana, E.
5. Medina, E.
6. de las Heras, R.S.
7. Lluch, M.
8. Muñoz, A.
9. Hoyo, P.d.
10. Martín, R.
11. Gort, L.
12. Briones, P.
13. Ribes, A.