Article
The E326K mutation and Gaucher disease: mutation or polymorphism?
Clinical genetics - 1 Jan 2002
Park J K, Tayebi N, Stubblefield B K, LaMarca M E, MacKenzie J J, Stone D L, Sidransky E
Abstract excerpt
Gaucher disease is caused by mutations in the gene for human glucocerebrosidase, a lysosomal enzyme involved in the intracellular hydrolysis of glucosylceramide. While over 150 different glucocerebrosidase mutations have been identified in patients with Gaucher disease, not all reported mutations have been fully characterized as being causative. One such mutation is the E326K mutation, which results from a G to A...
Topics
- Alleles
- Case-Control Studies
- Cells, Cultured
- DNA Mutational Analysis
- Female
- Gaucher Disease
- Glucosylceramidase
- Humans
- Male
- Mutation, Missense
- Polymorphism, Genetic