A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy

Familial juvenile hyperuricemic nephropathy (FJHN; OMIM 162000) is an autosomal dominant disorder characterized by hyperuricemia and gouty arthritis due to reduced kidney excretion of uric acid and progressive renal failure. Gradual progressive interstitial renal disease, with basement membrane thic...

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Detalles Bibliográficos
Autores principales: Lee, Mi-Na, Jun, Ji-Eun, Kwon, Ghee Young, Huh, Woo-Seong, Ki, Chang-Seok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698310/
https://www.ncbi.nlm.nih.gov/pubmed/23826568
http://dx.doi.org/10.3343/alm.2013.33.4.293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3698310/
https://www.ncbi.nlm.nih.gov/pubmed/23826568
http://dx.doi.org/10.3343/alm.2013.33.4.293

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