Publicacións en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (3)

2012

  1. Corrigendum to "Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form" [Molecular Genetics and Metabolism 94/2 (2008) 234-239]

    Molecular Genetics and Metabolism

2010

  1. Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2008

  1. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

    Molecular Genetics and Metabolism, Vol. 94, Núm. 2, pp. 234-239