Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.

1. Climent, C.
2. García-Pérez, M.A.
3. Sanjurjo, P.
4. Ruiz-Sanz, J.I.
5. Vilaseca, M.A.
6. Pineda, M.
7. Campistol, J.
8. Rubio, V.