[HTML][HTML] Exon identity crisis: disease-causing mutations that disrupt the splicing code
T Sterne-Weiler, JR Sanford - Genome biology, 2014 - Springer
Genome biology, 2014•Springer
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.
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.
Abstract
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.
Springer