Publicaciones en las que colabora con José Ignacio Ruíz Sanz (1)

1999

  1. 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.

    Human mutation, Vol. 14, Núm. 4, pp. 352-353