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
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M. Pineda | M. García-Pérez | M. Vilaseca | J. Campistol | J. Ruiz-Sanz | P. Sanjurjo | Vicente Rubio | C. Climent | Pablo Sanjurjo