Article
Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 Apr 2003
Carballo-Trujillo Irma, Garcia-Nieto Victor, Moya-Angeler Francisco J, Antón-Gamero Montserrat, Loris Cesar, Méndez-Alvarez Sebastián, Claverie-Martin Felix
Abstract excerpt
BACKGROUND: Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The disease is caused by mutations in the X-linked chloride channel CLCN5 gene, which encodes a 746-amino-acid protein expressed in renal tubules. These mutations have been reported in unrelated families from the UK, USA, Japan and other countries....
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