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. 2017 Jul 26;25(10):1126–1133. doi: 10.1038/ejhg.2017.107

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Electropherograms of dideoxy-sequence analyses. Red line indicates the start of the deletion. (a) control DNA. (b) splice site variant in DNA of III.2 of family 1. (c) region of type 1Δ deletion in control DNA. (d) heterozygous type 1Δ deletion in DNA of III.2 of family 1. (e) homozygous type 1Δ deletion as seen in DNA of III.1 of family 3. (f) region of type 2Δ deletion in control DNA. (g) heterozygous type 2Δ deletion as seen in DNA of IV.6 of family 4. (h) homozygous type 2Δ deletion as seen in DNA of V.4 of family 4.