Article
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.
American journal of human genetics - 1 May 1992
Xie B, Wang W, Mahuran D J
Abstract excerpt
The AB-variant form of GM2 gangliosidosis is an inherited lysosomal storage disease. Biochemical data have linked its cause to the lack of a functional GM2 activator protein (activator). In the present study we identify a mutation in the gene encoding the activator protein of an AB-variant patient. These data represent direct evidence that the disease in the patient described here is a result of mutations at the...
Topics
- Base Sequence
- Blotting, Northern
- Blotting, Western
- Cell Line
- Cloning, Molecular
- G(M2) Activator Protein
- G(M2) Ganglioside
- Gangliosidoses
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction