A founder UMOD variant is a common cause of hereditary nephropathy in the British population
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DOI: 10.1136/jmg-2022-108704
Abstract: Background Monogenic disorders are estimated to account for 10%–12% of patients with kidney failure. We report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a… read more here.
Keywords: founder umod; umod variant; british population; variant common ... See more keywords