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doi: 10.1111/ahg.12178 Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1 1∗ 1 1 1 1 Saoussen M’dimegh , Asma Omezzine , Ibtihel M’barek , Amira Moussa , Sameh Mabrouk , 2 3 4 5 3 Hayet Kaarout , Genevieve ´ Souche , Jalel Chemli , Sabra Aloui ,Cecile ´ Aquaviva-Bourdain , 6 4 1 Abdellatif Achour , Saoussen Abroug and Ali Bouslama Biochemistry Department, Sahloul University Hospital, Sousse, Tunisia Internal Medicine A Department, Charles Nicolle University Hospital, Tunis, Tunisia Laboratory of Inborn Metabolic Diseases, Centre de Biologie Est, Hospices Civils de Lyon, Lyon, France Pediatric Department, Sahloul University Hospital, Sousse, Tunisia Nephrology Department, Fatouma Bourguiba University Hospital, Monastir, Tunisia Nephrology Department, Sahloul University Hospital, Sousse, Tunisia Summary Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive metabolic disorder caused by inherited mutations in the AGXT gene encoding liver peroxisomal alanine:glyoxylate aminotransferase (AGT). PH1 is a clinically and genetically heterogeneous disorder. The aim of our study was to analyze and characterize the mutational spectrum of PH1 in Tunisian patients. Materials and Methods Molecular studies of 146 Tunisian patients suspected with PH were performed by PCR/Restriction fragment length polymorphism (RFLP) to detect seven mutations described as
Annals of Human Genetics – Wiley
Published: Jan 1, 2017
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