Article
AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.
Genetic testing and molecular biomarkers - 1 Nov 2015
Boualla Lamiae, Tajir Mariam, Oulahiane Najat, Lyahyai Jaber, Laarabi Fatima Zahra, Chafai Elalaoui Siham, Soulami Kenza, Ait Ouamar Hassan, Sefiani Abdelaziz
Abstract excerpt
INTRODUCTION: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder caused by deficiency of alanine glyoxylate aminotransferase, due to a defect in the AGXT gene. Several mutations in this gene have been reported and some of them have been observed in multiple populations. The aim of our study was to analyze the mutations causing PH1 in the Moroccan population and to estimate its prevalence in...
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