Publicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria La Fe (3)

2021

  1. Mutant PRPF8 Causes Widespread Splicing Changes in Spliceosome Components in Retinitis Pigmentosa Patient iPSC-Derived RPE Cells

    Frontiers in Neuroscience, Vol. 15

2020

  1. Role of guca1c in primary congenital glaucoma and in the retina: Functional evaluation in zebrafish

    Genes, Vol. 11, Núm. 5

2016

  1. Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease

    Molecular Vision, Vol. 22, pp. 658-673