Associated Papers
A founder UMOD variant is a common cause of hereditary nephropathy in the British population.
Valluru MK et al.
Journal of Medical Genetics, 2023
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Pathogenic uromodulin mutations result in premature intracellular polymerization.
Stewart AP et al.
Febs Letters, 2015
Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure.
Smith GD et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.
Calado J et al.
Bmc Medical Genetics, 2005
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