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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus

Fig. 3

Illustrative model of the mini-gene analysis protocol. Patterned box depicts exon 5 and its flanking introns of the subcloned MPDZ gene, black ones depict exons 13 and 17 of 4.1R gene which was subcloned into pRc/CMV vector. Splicing of the wild type cDNA shows the authentic splicing and the inclusion of the three exons and that is noticed from the size of the amplified band on the gel (WT). Whereas, the mutant cDNA (Mu) shows a smaller band due to cryptic splicing and exon skipping. On the right side, the chromatograms represent both splice variants, dashed lines separate the joined exons

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BMC Medical Genetics

ISSN: 1471-2350

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