Publications in collaboration with researchers from Hospital Universitario La Paz (1)

2007

  1. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

    Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261