Article
Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
American journal of medical genetics - 15 Dec 1991
Choy F Y, Woo M, Der Kaloustian V M
Abstract excerpt
Gaucher disease, the most prevalent lysosomal storage disease, is an autosomal recessive sphingolipidosis resulting from deficient glucocerebrosidase activity. Genomic DNA of the structural gene of glucocerebrosidase from normal individuals and fifteen unrelated patients with the three clinical forms of Gaucher disease from the Montreal/Quebec region were amplified by the polymerase chain reaction technique....
Topics
- Base Sequence
- DNA
- DNA Mutational Analysis
- Female
- Gaucher Disease
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Quebec