Article
A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
The Journal of clinical investigation - 1 Jan 1990
Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E
Abstract excerpt
The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the glucocerebrosidase gene and due to the presence of a tightly linked, highly homologous pseudogene. We now report the occurrence of a "Lepore-like" glucocerebrosidase fusi...
Topics
- Adult
- Blotting, Southern
- Cells, Cultured
- Cloning, Molecular
- DNA
- Female
- Fibroblasts
- Gaucher Disease
- Gene Library
- Genes
- Glucosidases
- Glucosylceramidase
- Humans
- Mutation
- Polymerase Chain Reaction
- Pseudogenes
- Restriction Mapping
- Skin