Repositorio Institucional de Documentos

@article{Puisac:60702,
      author        = "Puisac, B. and Teresa-Rodrigo, M. and Hernández-Marcos,
                       M. and Baquero-Montoya, C. and Gil-Rodríguez, M.C and
                       Visnes, T. and Bot, C. and Gómez-Puertas, P. and Kaiser,
                       F.J. and Ramos, F.J. and Ström, L. and Pié, J.",
      title         = "{mRNA quantification of NIPBL isoforms A and B in adult
                       and fetal human tissues, and a potentially pathological
                       variant affecting only isoform a in two patients with
                       Cornelia de Lange syndrome}",
      year          = "2017",
}