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. 2020 Jan 28;11(2):135. doi: 10.3390/genes11020135

Figure 1.

Figure 1

(A) RT-PCR analysis of GAA transcripts from fibroblasts derived from three Pompe patients and two healthy controls. (B) The mutations were identified and confirmed using Sanger sequencing for the three patients. The c.-32-13T>G and c.2074C>T mutations were identified from genomic DNA and the c.1910_1918del and c.1082C>G from RT-PCR products. (C) RT-qPCR analysis of the full-length GAA transcript containing exon 2. (D) GAA activity (N = 3, Error bar = SD) and (E) western blotting analysis of GAA (110, 95, 75 and 70 kD) from fibroblasts derived from three patients and two healthy controls.