Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)

2010

  1. Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1

    Investigative Ophthalmology and Visual Science, Vol. 51, Núm. 5, pp. 2656-2663

  2. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: New mutations and detection of mutational founder effects

    European Journal of Human Genetics, Vol. 18, Núm. 1, pp. 118-124

2009

  1. Identification of an intronic single-point mutation in RP2 as the cause of semidominant X-linked retinitis pigmentosa

    Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 11, pp. 5107-5114