Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

@article{Tinschert2004FunctionalCO,
  title={Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.},
  author={Sigrid Tinschert and Nico Ruf and Ilenia Bernascone and Kai Sacherer and Giuseppe Lamorte and H N Neumayer and Peter N{\"u}rnberg and Friedrich C. Luft and Luca Rampoldi},
  journal={Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association},
  year={2004},
  volume={19 12},
  pages={3150-4}
}
BACKGROUND Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal-dominant disorder featuring hyperuricaemia, low fractional urate excretion, interstitial nephritis and chronic renal failure. The responsible gene UMOD was recently identified. UMOD encodes for uromodulin or Tamm-Horsfall glycoprotein, the most abundant protein in normal urine. We encountered a family with FJHN and identified a novel UMOD mutation in exon 6. METHODS We sequenced the gene in all family members… CONTINUE READING

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Clinical characterization of a family with a mutation in the uromodulin (TammHorsfall glycoprotein) gene

  • AJ Bleyer, AS Woodward, Z Shihabi
  • Kidney Int
  • 2003
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