Article
Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients.
DNA and cell biology - 1 Jan 2000
Latham T E, Theophilus B D, Grabowski G A, 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 several simple and complex alleles of the acid beta-glucosidase gene have been identified as causal to this disease. Certain combinations of alleles have been shown to correlate well with the severity of the disease, but...
Topics
- Alleles
- Base Sequence
- Exons
- Gaucher Disease
- Humans
- Immunoblotting
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- beta-Glucosidase