- A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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Lee DH, Kim JK, Oh SE, Noh JW, Lee YK
- KMID: 1779244
- J Korean Med Sci.
- 2010 Nov;25(11):1680-1682.
- doi: 10.3346/jkms.2010.25.11.1680
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not... -
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- A Novel UMOD Mutation (c.187T>C) in a Korean Family with Juvenile Hyperuricemic Nephropathy
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Lee MN, Jun JE, Kwon GY, Huh WS, Ki CS
- KMID: 1707239
- Ann Lab Med.
- 2013 Jul;33(4):293-296.
- doi: 10.3343/alm.2013.33.4.293
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.... -
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