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Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1

Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1 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 http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

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References (47)

Publisher
Wiley
Copyright
Copyright © 2017 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12178
pmid
27935012
Publisher site
See Article on Publisher Site

Abstract

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

Journal

Annals of Human GeneticsWiley

Published: Jan 1, 2017

Keywords: ; ; ;

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