A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy

Familial juvenile hyperuricemic nephropathy (FJHN), characterized by early-onset hyperuricemia, reduced fractional excretion of uric acid, and chronic renal failure is caused due to mutation in uromodulin (UMOD) gene. We identified a novel mutation in a family with multiple members affected with FJH...

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Detalles Bibliográficos
Autores principales: Saxena, D., Srivastava, P., Phadke, S. R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015516/
https://www.ncbi.nlm.nih.gov/pubmed/27795632
http://dx.doi.org/10.4103/0971-4065.167277

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015516/
https://www.ncbi.nlm.nih.gov/pubmed/27795632
http://dx.doi.org/10.4103/0971-4065.167277

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