Article
Mutations in HOGA1 do Not Confer a Dominant Phenotype Manifesting as Kidney Stone Disease.
The Journal of urology - 1 May 2021
Bar Roi, Ben-Shalom Efrat, Duvdevani Mordechai, Belostotsky Ruth, Pollak Martin R, Mount David B, Bar-Gal Ruth, Gnessin Ehud, Tzur Shay, Curhan Gary C, Frishberg Yaacov
Abstract excerpt
PURPOSE: The etiology of calcium-oxalate kidney stone formation remains elusive. Biallelic mutations in HOGA1 are responsible for primary hyperoxaluria type 3 and result in oxalate overproduction and kidney stone disease. Our previous study showed that carriers of HOGA1 mutations have elevated urinary levels of oxalate precursors. In this study we explored the possibility that mutations in HOGA1 confer a dominant...
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