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Article

The rs61742690 (S783N) single nucleotide polymorphism is a suitable target for disrupting BCL11A-mediated foetal-to-adult globin switching

15 Feb 2019

Abstract excerpt

BACKGROUND: B-cell lymphoma/leukaemia 11A (BCL11A) is a C2H2-type zinc-finger transcription factor protein that is a critical modulator of haemoglobin switching and suppresses the production of foetal haemoglobin. Variation in the BCL11A gene ameliorates the severity of sickle cell disease (SCD) and β-thalassemia (β-thal). The BCL11A gene is located on chromosome 2p16.1 and encodes an 835-amino acid protein....

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PMID: 30768627
DOI: 10.1371/journal.pone.0212492

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