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A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

BACKGROUND: Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene have been found responsible for the disease in some families. CASE PRESENTATIO...

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Hlavní autoři: Calado, Joaquim, Gaspar, Augusta, Clemente, Carla, Rueff, José
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2005
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC548506/
https://ncbi.nlm.nih.gov/pubmed/15673476
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-5
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