Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.

Abstract excerpt

Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C-->T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at positi...

Topics

• Arab World
• Arginine
• Base Sequence
• Cysteine
• Glucose-6-Phosphatase
• Glycogen Storage Disease Type I
• Humans
• Jews
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational