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Luciferase reporter assays to measure NBEAL2 enhancer activity The NBEAL2 enhancer region is located about 31 kb upstream of the NBEAL2 gene and within an intron of the CCDC12 gene (GRCh37/hg19) and was cloned as two fragments, these being Chr3:46988756-46989716 (comprising 3 potential GATA sites BS-1-2-3) and Chr3:46989733-46990332 (comprising 2 potential GATA sites BS-4-5) in the pGL3 promotor (enhancer-less) vector (Promega)

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