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Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.

Katarzyna RawaRoman J SzczesnyEwelina P OwczarekAnna Adamowicz-SalachAnna KlukowskaUrszula DemkowDanuta PlochockaPawel SzczesnyMonika GoraAndrzej DziembowskiBeata Burzynska
Published in: BMC medical genetics (2017)
Our results show that a lack of natural stop codon due to the frameshift in exon 3 of β-globin gene causes rapid degradation of its mRNA and indicate existence of novel surveillance pathway.
Keyphrases
  • copy number
  • genome wide
  • public health
  • genome wide identification
  • binding protein
  • gene expression
  • dna methylation