Splicing mutations in human genetic disorders: examples, detection, and confirmation

@inproceedings{Anna2018SplicingMI,
  title={Splicing mutations in human genetic disorders: examples, detection, and confirmation},
  author={Abramowicz Anna and Gos Monika},
  booktitle={Journal of Applied Genetics},
  year={2018}
}
Precise pre-mRNA splicing, essential for appropriate protein translation, depends on the presence of consensus “cis” sequences that define exon-intron boundaries and regulatory sequences recognized by splicing machinery. Point mutations at these consensus sequences can cause improper exon and intron recognition and may result in the formation of an aberrant transcript of the mutated gene. The splicing mutation may occur in both introns and exons and disrupt existing splice sites or splicing… CONTINUE READING

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