Article
Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays.
Human mutation - 1 Jan 2006
Dominissini Silvia, Buratti Emanuele, Bembi Bruno, Baralle Marco, Pittis Maria Gabriela
Abstract excerpt
The correct identification of disease-causing mutations from the background of harmless nucleotide polymorphisms/substitutions has become a critical issue in the investigation of human genetic diseases. Here, we describe two novel disease-causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4426A>G, that have been found in two patients affected by Gaucher disease. The g.4252C>G substitution...
Topics
- Aged
- Alternative Splicing
- DNA Mutational Analysis
- Exons
- Female
- Fibroblasts
- Gaucher Disease
- Glucosylceramidase
- HeLa Cells
- Humans
- Male
- Middle Aged
- Mutation
- RNA Splice Sites
- RNA, Messenger
- Tumor Cells, Cultured