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 BurzynskaPublished 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.