Publications by the researcher in collaboration with Pablo Gabriel Sanjurjo Crespo (3)

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

1995

  1. A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency

    Human Genetics, Vol. 96, Núm. 5, pp. 549-551

  2. Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity

    Human Genetics, Vol. 95, Núm. 2, pp. 183-186