Article
Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
American journal of human genetics - 1 Jul 1990
Latham T, Grabowski G A, Theophilus B D, Smith F I
Abstract excerpt
Gaucher disease is inherited in an autosomal recessive manner and is the most prevalent lysosomal storage disease. Gaucher disease has marked phenotypic variation and molecular heterogeneity, and seven point mutations in the acid beta-glucosidase (beta-Glc) gene have been identified. By means of...
Topics
- Alleles
- Base Sequence
- Cloning, Molecular
- Gaucher Disease
- Glucosidases
- Glucosylceramidase
- Humans
- Jews
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction