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Fig. 1 | BMC Neurology

Fig. 1

From: A case of Wilson’s disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature

Fig. 1

Mutation analysis of 21 exons and flanking sequences of ATP7B gene by applying targeted sequencing technology, verified using the sanger sequencing method. The results show that compound heterozygous missense variants c.2294A>G (p.D765G) (Figure1a) and c.3955C>T (p.R1319X) (Figure1b) exist in the ATP7B gene of the pre-witnesses, and all of them are known to be pathogenic mutations. Lineage validation revealed that the variants originated from the father (c.2294A>G) and mother (c.3955C>T), respectively

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BMC Neurology

ISSN: 1471-2377

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