Article
Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site.
Human genetics - 1 Sept 1994
Tuteja R, Tuteja N, Lilliu F, Bembi B, Galanello R, Cao A, Baralle F E
Abstract excerpt
No abstract is available from the source.
Topics
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Gaucher Disease
- Glucosylceramidase
- Humans
- Mutation
- Polymerase Chain Reaction