Fig. 2: Gene and protein expression.

(a) Reverse transcription quantitative polymerase chain reaction (RT-qPCR) results showing downregulation of UBE4A transcripts in fibroblasts from family A and lymphoblastoid cell lines (LCLs) from family D (black dots), compared with respective controls (white triangles). (b) Western blot results using antibody against UBE4A show absence of this protein in samples from A-1 and A-2.