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HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients

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Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4‐hydroxy‐2‐oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good… Click to show full abstract

Primary hyperoxaluria type 3 (PH3) is due to mutations in the recently identified 4‐hydroxy‐2‐oxoglutarate aldolase (HOGA1) gene. PH3 might be the least severe form with a milder phenotype with good preservation of kidney function in most patients. The aim of this study was to report three PH3 cases carrying mutations in HOGA1.

Keywords: gene mutations; primary hyperoxaluria; hyperoxaluria type; mutations primary; hoga1 gene

Journal Title: Journal of Clinical Laboratory Analysis
Year Published: 2017

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