2003). Scientists estimate that 15–60 percent of human genetic diseases involve splicing mutations, either through direct mutation of the splice-site signals or through disruption of other ...

But this is the first time Alu elements have been shown to cause alternative splicing. "Mutations like this have often been thought to be of limited consequence in evolution. Here the authors show ...

Synonymous mutations can remove binding sites for splicing proteins or create new ones, or change the rate of splicing overall. For instance, one recent study reported a synonymous mutation in the ...

offering new insights into how genes function and mutations contribute to disease. Their study is published in Genome Biology. "Precisely identifying splicing sites is key to understanding how ...

1129–5923C>G splice mutation was significantly enriched in patients with severe 5-FU-related toxicity (9.1%; 66 patients) compared with patients without toxicity (2.2%; 137 patients), confirming ...

Included in the NGS assay are the regions covering >65 different deep intronic splice mutations (which reside beyond the +/-50 intronic base pairs that flank all exons). Validation of the full panel ...

Included in the NGS assay are the regions covering >65 different deep intronic splice mutations (which reside beyond the +/-50 intronic base pairs that flank all exons). Validation of the full panel ...