Condition: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
rs121917773
in
UMOD
gene and
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria
PMID 17010121
2006 Defective intracellular trafficking of uromodulin mutant isoforms.
PMID 14570709
2003 Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.