A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations — A tool for the diagnosis of uromodulin-associated kidney disease

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Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

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Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

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Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics

Luca Rampoldi · Human Molecular Genetics · 2003 · 224 citations · Full text

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