Article
Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
American journal of medical genetics - 15 Jan 1994
Lewis B D, Nelson P V, Robertson E F, Morris C P
Abstract excerpt
Gaucher disease is the most common lysosomal storage disease. It is an autosomal recessive disorder that results from a deficiency of beta-glucocerebrosidase. Three clinical phenotypes have been described: non-neuronopathic, acute neuronopathic, and subacute neuronopathic. Genomic DNA from 28 Aus...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Australia
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 1
- DNA Mutational Analysis
- DNA Primers
- Female
- Frameshift Mutation
- Gaucher Disease
- Genetic Variation
- Genotype
- Humans
- Infant