First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD

Uromodulin (UMOD) gene mutation causes autosomal dominant Uromodulin-Associated Kidney Disease (UAKD), which in turn leads to end-stage renal disease. This is the first case report of a family with UAKD caused by a novel de novo mutation (E197X) in the UMOD gene. This case is a 28-year-old man with...

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Bibliografiska uppgifter
I publikationen:J Mol Genet Med
Huvudupphovsmän: Malakoutian, Tahereh, Amouzegar, Atefeh, Vali, Farzaneh, Asgari, Mojgan, Behnam, Babak
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4968202/
https://ncbi.nlm.nih.gov/pubmed/27489562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4172/1747-0862.1000218
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