Article
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
American journal of medical genetics - 1 Jun 1994
Choy F Y, Wei C, Applegarth D A, McGillivray B C
Abstract excerpt
Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and...
Topics
- Adult
- Base Sequence
- DNA
- Gaucher Disease
- Genome, Human
- Glucosylceramidase
- Humans
- Jews
- Male
- Molecular Sequence Data
- Mutation
- Poland
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Russia