Article
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.
Journal of genetics - 1 Mar 2017
Mahmoud Shekari Khaniani, Khorrami Aziz, Rafeey Mandana, Ghergherehchi Robabeh, Sima Mansoori Derakhshan
Abstract excerpt
Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene. We investigated the frequency of GSD Ia and clarified its molecular aspect in...
Topics
- Adolescent
- Alleles
- Biomarkers
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Humans
- Infant
- Iran
- Male
- Mutation
- Pedigree