Publications dans lesquelles il/elle collabore avec Víctor Manuel García Nieto (4)

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

2006

  1. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families

    Pediatric Nephrology, Vol. 21, Núm. 5, pp. 643-648

2005

  1. The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

    Journal of Human Genetics, Vol. 50, Núm. 7, pp. 370-374

2003

  1. De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

    Human Genetics, Vol. 113, Núm. 6, pp. 480-485