Article
Gaucher disease mutations in non-Jewish patients.
British journal of haematology - 1 Oct 1993
Beutler E, Gelbart T
Abstract excerpt
The DNA from 64 non-Jewish patients with Gaucher disease was examined for 29 different glucocerebrosidase mutations that are known to cause the disease. The most common was mutation 1448C and the second most common 1226G. Twenty of the mutations remained unidentified. These results were compared...
Topics
- Adolescent
- Adult
- Age Factors
- Base Sequence
- California
- Child, Preschool
- DNA
- Gaucher Disease
- Gene Frequency
- Genotype
- Glucosylceramidase
- Humans
- Jews
- Molecular Sequence Data
- Mutation