A founder umod variant is a common cause of hereditary nephropathy in the british population

HIGHLIGHTS

  • who: Manoj K Valluru and collaborators from the Department of Infection, Disease, The University of have published the research: A founder UMOD variant is a common cause of hereditary nephropathy in the British population, in the Journal: (JOURNAL)
  • what: The authors report the unexpected finding of an unusual uromodulin (UMOD) variant in multiple pedigrees within the British population and demonstrate a shared haplotype indicative of an ancestral variant. The authors report a rare UMOD variant, c.278_289delTCTGCCCCGAAG insCCGCCTCCT detected in a cluster of unrelated families within a contiguous geographical area with unexplained CKD leading to . . .

     

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