Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1

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

(2016) Saoussen M'dimegh et al.   ANNALS OF HUMAN GENETICS

AGXTGene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population

(2015) Lamiae Boualla et al.   Genetic Testing and Molecular Biomarkers

Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria

(2015) K. Hopp et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type

(2014) Giorgia Mandrile et al.   KIDNEY INTERNATIONAL

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria

(2014) Melissa D. Lage et al.   PLoS One

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing

(2014) Emma L. Williams et al.   Molecular Genetics & Genomic Medicine

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa

(2013) Majdi Nagara et al.   GENE

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

(2012) Bodo B Beck et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with Primary Hyperoxaluria Type I

(2011) Elisa Oppici et al.   MOLECULAR GENETICS AND METABOLISM

Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria

(2011) Ibtihel Benhaj Mbarek et al.   BMC Nephrology

Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene

(2009) Emma L. Williams et al.   HUMAN MUTATION

Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

(2009) Jérôme Harambat et al.   KIDNEY INTERNATIONAL

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

(2008) M.B. Coulter-Mackie et al.   MOLECULAR GENETICS AND METABOLISM