Article
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.
Human genetics - 1 Oct 1998
Ihara K, Kuromaru R, Hara T
Abstract excerpt
Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6-phosphate (G6P) translocase. A gene mutated in GSD type Ib patients has recently been isolated. We have determined the entire sequence of the human G6P translocase gene by PCR-...
Topics
- Antiporters
- Glycogen Storage Disease Type I
- Humans
- Infant
- Japan
- Monosaccharide Transport Proteins
- Mutation
- Phosphotransferases
- Polymerase Chain Reaction
- Sequence Analysis, DNA