Article
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.
Biochemical and biophysical research communications - 20 Jul 1998
Kure S, Suzuki Y, Matsubara Y, Sakamoto O, Shintaku H, Isshiki G, Hoshida C, Izumi I, Sakura N, Narisawa K
Abstract excerpt
Glycogen storage disease type Ib (GSD-Ib) is an inborn error of metabolism with autosomal recessive inheritance, caused by defects in microsomal transport of glucose-6-phosphate. Recently, Gerin et al isolated a human cDNA encoding a putative transporter homologous to bacterial transporters of he...
Topics
- Amino Acid Sequence
- Antiporters
- Biological Transport
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- DNA Mutational Analysis
- Genes, Recessive
- Genetic Linkage
- Glycogen Storage Disease Type I
- Humans
- Hybridomas
- Japan
- Molecular Sequence Data