Mutations in spliceosomal proteins and retina degeneration

@article{Rzickov2017MutationsIS,
  title={Mutations in spliceosomal proteins and retina degeneration},
  author={S̆{\'a}rka Růz̆ic̆kov{\'a} and David Staněk},
  journal={RNA Biology},
  year={2017},
  volume={14},
  pages={544 - 552}
}
ABSTRACT A majority of human genes contain non-coding intervening sequences – introns that must be precisely excised from the pre-mRNA molecule. This event requires the coordinated action of five major small nuclear ribonucleoprotein particles (snRNPs) along with additional non-snRNP splicing proteins. Introns must be removed with nucleotidal precision, since even a single nucleotide mistake would result in a reading frame shift and production of a non-functional protein. Numerous human… 
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