Research Article

PRPF3-Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2-Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

Figure 2

The depth and coverage of next-generation sequencing of the PRPF3 gene and the chromatogram obtained by Sanger sequencing (patient III:9). (a) The rectangle shows the averaged sequencing depth and coverage of the family for all 16 exons of the PRPF3 gene as screened by next-generation sequencing. (b) Sanger sequencing detected a heterozygous mutation (c.1481C>T, p.Thr494Met) in PRPF3.
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