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.
Timothy
T
Sterne-Weiler
Jeremy R
JR
Sanford
D017398:Alternative Splicing / Q000235:genetics*; D005091:Exons; D014644:Genetic Variation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012322:RNA Precursors / Q000235:genetics; D017422:Sequence Analysis, DNA
D012322:RNA Precursors