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. Author manuscript; available in PMC: 2016 Jan 31.
Published in final edited form as: JAMA Ophthalmol. 2015 Feb 1;133(2):133–139. doi: 10.1001/jamaophthalmol.2014.4266

Figure 3. B-Allele Frequencies Generated From Whole-Exome Sequencing Data for Both Affected Patients From Families MD-0312 and MD-0448.

Figure 3

Chromosome 4 of both probands is shown. For each proband, the top bar is the entire chromosome 4, and the bottom bar shows the magnified region around the causal mutation in RAB28 (marked by red vertical lines). A large absence of heterozygosity (AOH) block (gray area) of approximately 20 kB was identified in the proband from family MD-0312; a much smaller, approximately 1-kB AOH block, was seen in the proband from family MD-0448.