Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

Abstract excerpt

For more than three decades, researchers have known that consensus splice sites alone are not sufficient regulatory elements to provide complex splicing regulation. Other regulators, so-called splicing regulatory elements (SREs) are needed. Most importantly, their sequence variants often underlie the development of various human disorders. However, due to their variable location and high degeneracy, these...

Topics

• Genetic Diseases, Inborn
• Humans
• Molecular Diagnostic Techniques
• Mutation
• RNA Precursors
• RNA Splice Sites