Publicaciones en colaboración con investigadores/as de Hospital San Agustin (2)

2010

  1. 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