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Fig. 2 | BMC Pediatrics

Fig. 2

From: Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report

Fig. 2

RT-PCR performed on mRNA from peripheral blood and EBV-transformed B-cells. Agarose gel analysis of RT-PCR performed on cDNA from patient cells (P) and from two healthy controls (C1 and C2). Fragments were purified from gel and analyzed by Sanger sequencing. The PCRs were performed using a) forward primer in exon 5 and reverse primer in exon 10, b) forward primer in exon 7 and reverse primer in exon 8, c) A schematic illustration of splice events found in the patient samples

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