Article
Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
American journal of medical genetics - 20 Jan 1997
Choy F Y, Humphries M L, Ferreira P
Abstract excerpt
Gaucher disease is the most prevalent lysosomal storage disorder. It is autosomalrecessive, resulting in lysosomal glucocerebrosidase deficiency. Three clinical forms of Gaucher disease have been described: type 1 (nonneuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathi...
Topics
- Adult
- Alleles
- Cells, Cultured
- Codon, Terminator
- DNA, Complementary
- Exons
- Female
- Fibroblasts
- Frameshift Mutation
- Gaucher Disease
- Glucosylceramidase
- Humans
- Mutagenesis, Insertional
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Protein Biosynthesis
- Sequence Analysis, DNA