Publications in collaboration with researchers from Consejo Superior de Investigaciones Científicas (3)

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

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