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. 2017 Feb 3;31(6):956–961. doi: 10.1038/eye.2016.326

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Copyright © 2017 Royal College of Ophthalmologists Macmillan Publishers Limited, part of Springer Nature.

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Genetic characterization of the families with aniridia. (a) A heterozygous duplication (c.50dupA) in PAX6 was found in the proband (III2) and her father (II1) in family 1. (b) A heterozygous splice site deletion (c.765+1_765+2delGT) in PAX6 intron 9 was found in the proband (III2), her father (II1) and her son(IV1) in family 2. The wild-type sequences of unaffected family member are displayed at the top of the figure. The exact variants are indicated by the black arrow and identified. (c) Agarose gel electrophoresis of family 2 showed only one band (237 bp) in unaffected family members, whereas two bands (154 bp and 237 bp) are seen in the proband. (d) Aberrant cDNA sequence revealed skipping of PAX6 exon 9 consequent on the splice site deletion.