A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant
| author | |
| created | [InstanceEdit:1605804] Jassal, Bijay, 2011-09-21 |
| dbId | 1605612 |
| displayName | A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant |
| journal | J Neurochem |
| modified | [InstanceEdit:1605814] Jassal, B, 2011-09-21 |
| pages | 984-7 |
| pubMedIdentifier | 2970528 |
| schemaClass | LiteratureReference |
| title | A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant |
| url | http://www.ncbi.nlm.nih.gov/pubmed/2970528 |
| volume | 51 |
| year | 1988 |
Referrals
| (literatureReference) | |
| (author) |
© 2026 Reactome
