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

  1. Ramos-Trujillo, E.
  2. González-Acosta, H.
  3. Flores, C.
  4. García-Nieto, V.
  5. Guillén, E.
  6. Gracia, S.
  7. Vicente, C.
  8. Espinosa, L.
  9. Maseda, M.A.F.
  10. Santos, F.
  11. Camacho, J.A.
  12. Claverie-Martín, F.
Journal of Human Genetics

ISSN: 1434-5161

Year of publication: 2007

Volume: 52

Issue: 3

Pages: 255-261

Type: Article

DOI: 10.1007/S10038-007-0112-Y GOOGLE SCHOLAR lock_openOpen access editor