Article
Glucocerebrosidase mutations in Gaucher disease.
Molecular medicine (Cambridge, Mass.) - 1 Nov 1994
Beutler E, Demina A, Gelbart T
Abstract excerpt
BACKGROUND: Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified. Identifi...
Topics
- Adult
- Base Sequence
- Child
- Cytosine
- Exons
- Female
- Gaucher Disease
- Genetics, Population
- Glucosylceramidase
- Humans
- Jews
- Male
- Middle Aged
- Mutation
- Polymorphism, Single-Stranded Conformational