Figure 4. Sequence chromatograms of RP1 variations identified in families PKRP117, PKRP262, and PKRP344. A: Unaffected individual 7 homozygous for the wild-type. B: Unaffected individual 9 heterozygous. C: Affected individual 10 of PKRP117 homozygous for a single base pair deletion: c.3697delT in exon 4 of RP1. D: Unaffected individual 14 homozygous for the wild-type. E: Unaffected individual 11 heterozygous carrier. F: Affected individual 12 of PKRP262 homozygous for G to A transition in intron 3: c.787+1G >A. G: Control homozygous for the wild-type allele. H: Unaffected individual 9 heterozygous carrier. I: Affected individual 10 of PKRP344 homozygous for 2 bp duplication in exon 2: c.551_552dupTA.
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