Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1
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Title
Mutational Analysis of Agxt in Tunisian Population with Primary Hyperoxaluria Type 1
Authors
Keywords
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Journal
ANNALS OF HUMAN GENETICS
Volume 81, Issue 1, Pages 1-10
Publisher
Wiley
Online
2016-12-09
DOI
10.1111/ahg.12178
References
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Related references
Note: Only part of the references are listed.- AGXTGene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population
- (2015) Lamiae Boualla et al. Genetic Testing and Molecular Biomarkers
- 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
- Allele-specific Characterization of Alanine: Glyoxylate Aminotransferase Variants Associated with Primary Hyperoxaluria
- (2014) Melissa D. Lage et al. PLoS One
- Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: Implication for diagnosis in North Africa
- (2013) Majdi Nagara et al. GENE
- A double mutation in AGXT gene in families with primary hyperoxaluria type 1
- (2013) Houda Kanoun et al. GENE
- Primary Hyperoxaluria
- (2013) Pierre Cochat et al. NEW ENGLAND JOURNAL OF MEDICINE
- Primary hyperoxalurias: Disorders of glyoxylate detoxification
- (2012) Eduardo Salido et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- 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
- Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: results of the Dutch cohort
- (2012) S. M. van der Hoeven et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- 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
- Mutations in DHDPSL Are Responsible For Primary Hyperoxaluria Type III
- (2010) Ruth Belostotsky et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene
- (2009) Emma L. Williams et al. HUMAN MUTATION
- Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation
- (2009) Barbara Cellini et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Diagnostic biochimique et moléculaire de l’hyperoxalurie primaire de type 1 : étude tunisienne à propos de 15 cas
- (2009) R. Belhaj et al. PATHOLOGIE BIOLOGIE
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