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...

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Dades bibliogràfiques
Publicat a:CEN Case Rep
Autors principals: Iguchi, Akira, Eino, Atsushi, Yamazaki, Hajime, Ito, Tomoyuki, Saeki, Takako, Ito, Yumi, Imai, Naohumi, Ohsawa, Yutaka, In, Hiroyasu, Ichida, Kimiyoshi, Narita, Ichiei
Format: Artigo
Idioma:Inglês
Publicat: Springer Japan 2013
Matèries:
Case Report
Accés en línia: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
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