Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

SUMMARY: BACKGROUND: UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We reviewed cases of UMOD mutations diagnosed in the genetic laborato...

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Bibliografiska uppgifter
Huvudupphovsmän: Bollée, Guillaume, Dahan, Karin, Flamant, Martin, Morinière, Vincent, Pawtowski, Audrey, Heidet, Laurence, Lacombe, Didier, Devuyst, Olivier, Pirson, Yves, Antignac, Corinne, Knebelmann, Bertrand
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society of Nephrology 2011
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3359549/
https://ncbi.nlm.nih.gov/pubmed/21868615
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01220211
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