Article
1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.
Human molecular genetics - 1 Jun 1993
Tuteja R, Bembi B, Agosti E, Baralle F E
Abstract excerpt
Gaucher disease is the most common of the glycolipid storage diseases and is caused by an inherited deficiency of the enzyme glucocerebrosidase. It is a very heterogeneous disease and presents early and late onset forms which may or may not be associated with a neurological disease. Several point...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosomes, Human, Pair 1
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- Gaucher Disease
- Gene Frequency
- Genetic Linkage
- Genotype
- Glucosylceramidase
- Homozygote
- Humans
- Italy
- Male