Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene. [electronic resource]
- Human genetics Feb 2006
- 767-71 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/s00439-005-0096-7 doi
Alternative Splicing Animals COS Cells Chlorocebus aethiops DNA Mutational Analysis Exons GTP Phosphohydrolases--genetics Humans Introns Mutation Optic Atrophy, Autosomal Dominant--genetics RNA Splice Sites--genetics Transfection