Associated Papers
The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.
Wolf MT et al.
Kidney International, 2007
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Wolf MT et al.
Kidney International, 2003
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