A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea

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 all families with FJHN, genetic studies have revealed mutations in the uromodul...

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Detalles Bibliográficos
Autores principales: Lee, Dong Hun, Kim, Jin Kyung, Oh, Sook Eui, Noh, Jung Woo, Lee, Young-Ki
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967011/
https://www.ncbi.nlm.nih.gov/pubmed/21060763
http://dx.doi.org/10.3346/jkms.2010.25.11.1680

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967011/
https://www.ncbi.nlm.nih.gov/pubmed/21060763
http://dx.doi.org/10.3346/jkms.2010.25.11.1680

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