Article
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
The Journal of clinical investigation - 1 May 1994
Lei K J, Pan C J, Shelly L L, Liu J L, Chou J Y
Abstract excerpt
Glycogen storage disease (GSD) type 1a is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Southern blot hybridization analysis using a panel of human-hamster hybrids showed that human G6P...
Topics
- Base Sequence
- Chromosomes, Human, Pair 17
- Endoplasmic Reticulum
- Exons
- Female
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Heterozygote
- Humans
- Hybrid Cells
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Deletion