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Fig. 1 | BMC Medical Genetics

Fig. 1

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

Fig. 1

Pedigree of the patient’s family showing haplotypes for the ACADM allele variants in the patient, her siblings and her parents. Males are presented by squares, females by circles. Allele variants without mutation are represented by an open square or circle. Mutated allele variants are indicated by a solid (c.600-18G > A) or a shaded (c.985A > G) square or circle, respectively

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BMC Medical Genetics

ISSN: 1471-2350

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