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. 2016 Oct 17;126(11):4219–4236. doi: 10.1172/JCI85647

Figure 5. Loss of LRBA protein expression in patient 3 as a result of the duplication of exons 49 to 53 of LRBA.

Figure 5

(A) Schematic representation of exons 48–54 of LRBA in the control and patient 3 showing the presence of an Alu element and the duplication of exons 49–53 of LRBA from patient 3. (B) RT-PCR of LRBA cDNA from EBV-transformed B cells from patient 3 and a normal control shows normal amplification of exons 1–28, but absent amplification of exons 23–58 in patient 3, as compared with the control. (C) Immunoblot of LRBA in lysates of EBV-transformed B cells from patient 3 and a control showing absent LRBA protein expression in patient 3. Data are representative of 3 independent experiments.