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Figure WDR45 sequence changes in patients A and B

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Presentation on theme: "Figure WDR45 sequence changes in patients A and B"— Presentation transcript:

1 Figure WDR45 sequence changes in patients A and B
WDR45 sequence changes in patients A and B (A) Sanger sequence electropherograms of genomic PCR amplicons of patients A (exon 6, c.319_320delCT, p.L107Ffs*7) and B (exon 3, c.20G>A, p.Arg7Gln). The 2 deleted nucleotides are boxed in red. The arrow above the lower electropherogram marks the exact position of the missense mutation. (B) X-chromosome inactivation (XCI) patterns show skewed XCI for patient A (89:11) and random XCI (56:44) for patient B. Leonora Kulikovskaja et al. Neurol Genet 2018;4:e227 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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