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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Detalles Bibliográficos
Autores principales: Calado, Joaquim, Gaspar, Augusta, Clemente, Carla, Rueff, José
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC548506/
https://www.ncbi.nlm.nih.gov/pubmed/15673476
http://dx.doi.org/10.1186/1471-2350-6-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC548506/
https://www.ncbi.nlm.nih.gov/pubmed/15673476
http://dx.doi.org/10.1186/1471-2350-6-5

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