Article
Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Gene - 15 Sept 2013
Nagara Majdi, Tiar Afaf, Ben Halim Nizar, Ben Rhouma Faten, Messaoud Olfa, Bouyacoub Yosra, Kefi Rym, Hassayoun Saida, Zouari Noura, Ben Ammar Mohamed Slim, Abdelhak Sonia, Chemli Jalel
Abstract excerpt
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition of calcium oxalate. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine glyoxylate aminotransferase, are responsible for the disease. We aimed to determine the mutational spectrum causing PH1 and to provide an accurate tool for...
Topics
- Adolescent
- Child
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Haplotypes
- Humans
- Hyperoxaluria, Primary