Article
HOGA1 Gene Mutations of Primary Hyperoxaluria Type 3 in Tunisian Patients.
Journal of clinical laboratory analysis - 1 May 2017
M'dimegh Saoussen, Aquaviva-Bourdain Cécile, Omezzine Asma, Souche Geneviéve, M'barek Ibtihel, Abidi Kamel, Gargah Tahar, Abroug Saoussen, Bouslama Ali
Abstract excerpt
BACKGROUND: 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. MATERIALS AND METHODS: Genetic analysis of HOGA1 was performed in patients...
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