Article
Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
American journal of medical genetics - 15 Jun 1991
Choy F Y, Woo M, Der Kaloustian V M
Abstract excerpt
A Vietnamese-Czechoslovak type 1 Gaucher disease patient with mild hematological complications was found to have approximately 20% of the normal level of fibroblast glucocerebrosidase activity. Using primers that recognize exon 9 sequences of the glucocerebrosidase structural gene absent in the p...
Topics
- Alleles
- Base Sequence
- Child
- Czechoslovakia
- Gaucher Disease
- Genes
- Genes, Recessive
- Glucosylceramidase
- Humans
- Male
- Molecular Structure
- Mutation
- Phenotype