Article
Structure and mutation analysis of the glycogen storage disease type 1b gene.
FEBS letters - 2 Oct 1998
Marcolongo P, Barone V, Priori G, Pirola B, Giglio S, Biasucci G, Zammarchi E, Parenti G, Burchell A, Benedetti A, Sorrentino V
Abstract excerpt
Glycogen storage disease (GSD) 1b is the deficiency of endoplasmic reticulum glucose-6-phosphate (G6P) transport. We here report the structure of the gene encoding a protein likely to be responsible for G6P transport, and its mapping to human chromosome 11q23.3. The gene is composed of nine exons...
Topics
- Antiporters
- Australia
- Chromosome Mapping
- Chromosomes, Human, Pair 11
- Codon, Terminator
- DNA
- DNA Primers
- Exons
- Glycogen Storage Disease Type I
- Humans
- Introns
- Italy
- Monosaccharide Transport Proteins
- Mutation
- Peru
- Phosphotransferases
- Point Mutation
- Polymorphism, Single-Stranded Conformational