Article
Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
American journal of human genetics - 1 Jun 1994
Chakraborty S, Rafi M A, Wenger D A
Abstract excerpt
Three adult patients with acid beta-galactosidase deficiency/GM1 gangliosidosis who were from two unrelated families of Scandinavian descent were found to share a common point mutation in the coding region of the corresponding gene. The patients share common clinical features, including early dys...
Topics
- Adult
- Alleles
- Base Sequence
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Gangliosidosis, GM1
- Gene Expression
- Genetic Carrier Screening
- Humans
- Introns
- Lysosomes
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Point Mutation