Publications by the researcher in collaboration with Vicente Rubio Zamora (5)

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

1997

  1. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

    Journal of Inherited Metabolic Disease, Vol. 20, Núm. 6, pp. 769-777

1996

  1. Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

    Human Genetics, Vol. 97, Núm. 3, pp. 274-276

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