Article
Four additional CLCN5 exons encode a widely expressed novel long CLC-5 isoform but fail to explain Dent's phenotype in patients without mutations in the short variant.
Kidney & blood pressure research - 1 Jan 2003
Ludwig Michael, Waldegger Siegfried, Nuutinen Matti, Bökenkamp Arend, Reissinger Annette, Steckelbroeck Stephan, Utsch Boris
Abstract excerpt
BACKGROUND: Dent's disease is caused by mutations in the CLCN5 gene coding for the chloride channel CLC-5. However, sequencing of CLCN5 exonic regions in some patients presenting with low-molecular-weight proteinuria and hypercalciuria - the hallmarks of Dent's disease - failed to identify causative mutations. AIM: Given the observation that some species harbour a CLCN5 mRNA encoding an extended CLC-5...
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