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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening

Fig. 4

Percental amounts of different splice products (studied in patient 1). Previously identified splicing fragments were confirmed with fragment analysis (H = height, S = size of the fragment). Data of the fragment analysis were tabularized (Additional file 3: Table S2) and single fragment heights were set in relation to overall heights (summarized fragment heights of the particular sample) to determine the percental distribution of the different splice products in each sample. (CTL GRAN = control granulocytes, MNC = monocytes, GRAN = granulocytes)

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BMC Medical Genetics

ISSN: 1471-2350

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