Article
[Deregulation of pre-messenger RNA splicing and rare diseases].
Medecine sciences : M/S - 1 Dec 2016
de la Grange Pierre
Abstract excerpt
Most of protein-coding human genes are subjected to alternative pre-mRNA splicing. This mechanism is highly regulated to precisely modulate detection of specific splice sites. This regulation is under control of the spliceosome and several splicing factors are also required to modulate the alternative usage of splice sites. Splicing factors and spliceosome components recognize splicing signals and regulatory...
Topics
- Alternative Splicing
- Humans
- Mutation
- RNA Precursors
- RNA Splicing
- Rare Diseases