Results: An intronic mutation (c.4810+3_4810+6dupGGGT) in the SCN5A gene, located outside the consensus splice site, was detected in this study in a family with a highly variable clinical phenotype of ...

These mutations can result in either complete skipping of the exon, retention of the intron, or the introduction of a new splice site within an exon or intron. Sometimes mutations that do not disrupt ...

either through direct mutation of the splice-site signals or through disruption of other components of the splicing pathway (Wang & Cooper 2007). Therefore, understanding what information in pre ...

Mutation were detected in 9 patients. We describe the first ATM mutation in the splice junction found in the 5′ splice site of intron 17, leading to exon skipping. However, most mutations were ...

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 ...

1.21%), silent (5 mutations 1.01%) and splice site mutations (2 mutations, 0.405%). Variants were found across all segments of the Nav1.5 protein apart from DII-S3/S4. Exon 28 of the SCN5a gene ...

As the first-ever IND for a Protein Splicing gene therapy, it is a huge step forward to demonstrate the potential of this new therapeutic modality to address diseases caused by mutations in large ...

A number of these mutations affect transcription and splicing of the dystrophin gene in a tissue specific manner; others may affect regions of dystrophin that are presumed to have a more important ...