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A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy
Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal-dominant disorder that is characterized by hyperuricemia and chronic renal failure and results in end-stage renal failure. FJHN is caused by mutations in the UMOD gene, which encodes uromodulin. Uromodulin contains three epidermal gr...
में बचाया:
| में प्रकाशित: | CEN Case Rep |
|---|---|
| मुख्य लेखकों: | , , , , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Springer Japan
2013
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5413657/ https://ncbi.nlm.nih.gov/pubmed/28509303 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-013-0069-y |
| टैग : |
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