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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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Autori principali: Lee, Mi-Na, Jun, Ji-Eun, Kwon, Ghee Young, Huh, Woo-Seong, Ki, Chang-Seok
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Society for Laboratory Medicine 2013
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Accesso online: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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