Article
An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.
Human genetics - 1 Apr 2003
Ricci Verena, Regis Stefano, Di Duca Marco, Filocamo Mirella
Abstract excerpt
Hunter syndrome (Mucopolysaccharidosis type II), a rare X-linked lysosomal storage disorder, results from deleterious mutations in the iduronate-2-sulfatase ( IDS) gene located on Xq27.3-q28. Partial or complete deletions and large rearrangements have been extensively reported in the IDS gene as the basis of Hunter disease. The present report, however, is the first report on a Hunter patient in which Alu-mediated...
Topics
- Alternative Splicing
- Alu Elements
- Child, Preschool
- Exons
- Gene Rearrangement
- Humans
- Mucopolysaccharidosis II
- Mutation
- RNA, Messenger
- Reverse Transcriptase Polymerase Chain Reaction