Splicing regulation as a potential genetic modifier.

@article{NissimRafinia2002SplicingRA,
  title={Splicing regulation as a potential genetic modifier.},
  author={Malka Nissim-Rafinia and Batsheva Kerem},
  journal={Trends in genetics : TIG},
  year={2002},
  volume={18 3},
  pages={123-7}
}
Inherited diseases are associated with profound phenotypic variability, which is affected strongly by genetic modifiers. The splicing machinery could be one such modifying system, through a mechanism involving splicing motifs and their interaction with a complex repertoire of splicing factors. Mutations in splicing motifs and changes in levels of splicing factors can result in different splicing patterns. Changes in the level of normal transcripts or in the relative pattern of different mRNA… CONTINUE READING

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