Defects in pre-mRNA processing as causes of and predisposition to diseases.

@article{Stoilov2002DefectsIP,
  title={Defects in pre-mRNA processing as causes of and predisposition to diseases.},
  author={Peter Stoilov and Eran Meshorer and Marieta Gencheva and David Glick and Hermona Soreq and Stefan Stamm},
  journal={DNA and cell biology},
  year={2002},
  volume={21 11},
  pages={803-18}
}
Humans possess a surprisingly low number of genes and intensively use pre-mRNA splicing to achieve the high molecular complexity needed to sustain normal body functions and facilitate responses to altered conditions. Because hundreds of thousands of proteins are generated by 25,000 to 40,000 genes, pre-mRNA processing events are highly important for the regulation of human gene expression. Both inherited and acquired defects in pre-mRNA processing are increasingly recognized as causes of human… CONTINUE READING

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