Article
Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.
Biochimica et biophysica acta - 13 Oct 1992
Brown C A, McInnes B, de Kremer R D, Mahuran D J
Abstract excerpt
Beta-hexosaminidase A (beta-N-acetyl-D-hexosaminidase, EC 3.2.1.5.2) is a lysosomal hydrolase composed of an alpha- and a beta-subunit. It is responsible for the degradation of GM2 ganglioside. Mutations in the HEXB gene encoded beta-subunit cause a form of GM2 gangliosidosis known as Sandhoff disease. Although this is a rare disease in the general population, several geographically isolated groups have a high...
Topics
- Argentina
- Base Sequence
- Cell Line
- DNA
- DNA Mutational Analysis
- Hexosaminidase B
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA Splicing
- RNA, Messenger