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Forward and reverse sequence chromatograms of family PKRP064. (A) Individual 15 harbouring the wild type allele; (B) individual 14 heterozygous and (C) affected individual 12 homozygous for C to T transition c.466 C→T, resulting in a p.R156X. All affected members of family PKRP064 are homozygous for the mutation, whereas the unaffected individuals are either heterozygous carriers or homozygous for the wild type allele.
