Article
Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
American journal of medical genetics - 4 Dec 1998
Cormand B, Harboe T L, Gort L, Campoy C, Blanco M, Chamoles N, Chabás A, Vilageliu L, Grinberg D
Abstract excerpt
Gaucher disease (GD) is caused by a deficiency of beta-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among wh...
Topics
- Alleles
- Argentina
- DNA Mutational Analysis
- Gaucher Disease
- Genetic Heterogeneity
- Glucosylceramidase
- Humans
- Mutation
- Polymorphism, Genetic
- Polymorphism, Single-Stranded Conformational
- Prevalence