Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

1. Arrabal, L.
2. Teresa, L.
3. Sánchez-Alcudia, R.
4. Castro, M.
5. Medrano, C.
6. Gutiérrez-Solana, L.
7. Roldán, S.
8. Ormazábal, A.
9. Pérez-Cerdá, C.
10. Merinero, B.
11. Pérez, B.
12. Artuch, R.
13. Ugarte, M.
14. Desviat, L.R.