Our lab is interested in the genetic and molecular basis of several renal hereditary diseases, particularly primary tubulopathies that present hypercalciuria, nephrocalcinosis and renal failure as common features. In last few years we have determined the genetic causes of two of these disease, Dent disease and familial hypomagnesemia with hipercalciuria and nephrocalcinosis (FHHNC), in more than sixty Spanish families. Our investigations are also aimed at determining the functional consequences of apparent missense and silent mutations, associated with renal diseases, in pre-mRNA splicing.