Article
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.
The Journal of clinical investigation - 1 Aug 1992
McInnes B, Potier M, Wakamatsu N, Melancon S B, Klavins M H, Tsuji S, Mahuran D J
Abstract excerpt
Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase A activity in his cultured fibroblast...
Topics
- Base Sequence
- Genes
- Glucuronidase
- Hexosaminidase A
- Hexosaminidase B
- Humans
- Isoenzymes
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Pedigree
- Phenotype
- Polymerase Chain Reaction