Exon identity crisis: disease-causing mutations that disrupt the splicing code

Cis-acting RNA elements control the accurate expression of human multi-exon protein coding genes. Single nucleotide variants altering the fidelity of this regulatory code and, consequently, pre-mRNA splicing are expected to contribute to the etiology of numerous human diseases.

Detalles Bibliográficos
Autores principales: Sterne-Weiler, Timothy, Sanford, Jeremy R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053859/
https://www.ncbi.nlm.nih.gov/pubmed/24456648
http://dx.doi.org/10.1186/gb4150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4053859/
https://www.ncbi.nlm.nih.gov/pubmed/24456648
http://dx.doi.org/10.1186/gb4150

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