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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report

Fig. 1

Exonic duplication of the OTC gene in a female OTCD patient. a MLPA results for the OTC gene in this patient indicting duplication of exons 1–6. b Structure of the OTC gene. The blue boxes denote exons. The enhancer and promoter regions are shown in red and orange, respectively. The positions of the qPCR units are indicated by green arrows. Upstream qPCR units: U1 - U4. Downstream qPCR units: D1 - D4. c qPCR results. The left and right panels show the qPCR findings for the upstream and downstream regions, respectively. The blue bars indicate the patient and the red and green bars denote the male and female controls, respectively. The Y- axis indicates the ΔΔ Ct ratio

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