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Fig. 5 | BMC Medical Genetics

Fig. 5

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

Fig. 5

Working model of the splice reaction with cryptic donor and acceptor sites. Exons are boxed, introns are represented by lines. The mutation in intron 7 of the patient leads to the activation of cryptic donor and acceptor sites that compete with the natural splice site thereby resulting in partial deletion (variant 1) or skipping of exon 8 (variant 2)

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BMC Medical Genetics

ISSN: 1471-2350

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