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Article

NUMB dysfunction defines a novel mechanism underlying hyperuricemia and gout

22 Oct 2024

Abstract excerpt

Abstract Defective renal excretion and increased production of uric acid engender hyperuricemia that predisposes to gout. However, molecular mechanisms underlying defective uric acid excretion remain largely unknown. Here, we report a rare genetic variant of gout-unprecedented NUMB gene within a hereditary human gout family, which was identified by an unbiased genome-wide sequencing approach. This dysfunctional...

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PMID: 39433541
DOI: 10.1038/s41421-024-00708-6

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