Article
GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal.
American journal of human genetics - 1 Oct 1991
dos Santos M R, Tanaka A, sá Miranda M C, Ribeiro M G, Maia M, Suzuki K
Abstract excerpt
The GM2-gangliosidosis B1 variant occurs at an exceptionally high frequency in the northern part of Portugal. In most patients, the disease manifests itself as a juvenile form, as opposed to the late-infantile form described for many patients from other parts of the world. We have analyzed the beta-hexosaminidase alpha gene in 11 patients, as well as in some relatives, in order to characterize the underlying...
Topics
- Adolescent
- Arginine
- Blotting, Southern
- Cell Line, Transformed
- Child
- Child, Preschool
- Female
- G(M2) Ganglioside
- Humans
- Male
- Mutation