Fig. 3.

a cDNA was made from P7 mRNA, amplified by PCR and Sanger sequenced. Skipping of 77 nucleotides, equating to the whole of exon 15, is clearly visible. The translated amino acid sequence of the mis-spliced transcript is shown above the nucleotide sequence. b Western blot of PBMC protein lysate from the TPP2 patient (P7) and a control individual, staining for TPP2 (138KDa) and GAPDH (36KDa). Full length TPP2 is present in the control but absent in the patient confirming TPP2 deficiency. GAPDH intensity is similar in both patient and control confirming similar loading of protein. A non-specific band is present at approximately 115 KDa in both the patient and control