Publications in collaboration with researchers from Hospital Universitario de Cruces (2)

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