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A role for OCRL in glomerular function and disease.

著者 Preston R , Naylor RW , Stewart G , Bierzynska A , Saleem MA , Lowe M , Lennon R
Pediatr Nephrol.2019 Dec 06 ; ():.
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Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases.
PMID: 31811534 [PubMed - as supplied by publisher]
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