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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...

Täydet tiedot

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Bibliografiset tiedot
Julkaisussa:BMC Med Genet
Päätekijät: Calado, Joaquim, Gaspar, Augusta, Clemente, Carla, Rueff, José
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2005
Aiheet:
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC548506/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15673476/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2350-6-5
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