PABLO GABRIEL
SANJURJO CRESPO
Researcher in the period 1987-2014
Consejo Superior de Investigaciones Científicas
Madrid, EspañaPublications in collaboration with researchers from Consejo Superior de Investigaciones Científicas (2)
1995
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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
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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