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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Detalhes bibliográficos
Main Authors: Lee, Mi-Na, Jun, Ji-Eun, Kwon, Ghee Young, Huh, Woo-Seong, Ki, Chang-Seok
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2013
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3698310/
https://ncbi.nlm.nih.gov/pubmed/23826568
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.4.293
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