Article
Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.
Molecular biology and evolution - 1 Feb 2016
Wu XianMing, Hurst Laurence D
Abstract excerpt
Where in genes do pathogenic mutations tend to occur and does this provide clues as to the possible underlying mechanisms by which single nucleotide polymorphisms (SNPs) cause disease? As splice-disrupting mutations tend to occur predominantly at exon ends, known also to be hot spots of cis-exonic splice control elements, we examine the relationship between the relative density of such exonic cis-motifs and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.