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

Timothy Sterne-Weiler1 and Jeremy R Sanford2*

Author Affiliations

1 Banting and Best Department of Medical Research, University of Toronto, 160 College St, Toronto, ON M5S 3E1, Canada

2 Department of Molecular, Cellular and Developmental Biology, University of California Santa Cruz, 1156 High Street, Santa Cruz, CA 95060, USA

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Genome Biology 2014, 15:201  doi:10.1186/gb4150

Published: 23 January 2014


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.