Article
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
The Journal of clinical investigation - 1 Jan 1995
Lei K J, Shelly L L, Lin B, Sidbury J B, Chen Y T, Nordlie R C, Chou J Y
Abstract excerpt
Glycogen storage disease (GSD) type 1, which is caused by the deficiency of glucose-6-phosphatase (G6Pase), is an autosomal recessive disease with heterogenous symptoms. Two models of G6Pase catalysis have been proposed to explain the observed heterogeneities. The translocase-catalytic unit model proposes that five GSD type 1 subgroups exist which correspond to defects in the G6Pase catalytic unit (1a), a...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- Cloning, Molecular
- Genome, Human
- Glucose-6-Phosphatase
- Glycogen Storage Disease Type I
- Heterozygote
- Homozygote
- Humans