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The family pedigree and sequencing chromatograms of the DISP1-exon 8 showing a de novo heterozygous mutation [c.4412C>G (p.Ala1471Gly)] on lymphoblastoid cell line derived DNA of Patient 1. The peripheral blood derived DNA of the patient demonstrates a low level of the mutant allele, while there is no detectable mutant allele in his saliva derived DNA, indicative of tissue specific mosaicism. Arrows show the heterozygous C to G substitution in the patient.
