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WAVE analysis results. Line with single peak (brown): normal DNA. Line with two peaks (olive): heterozygous c.3060–3063delCCTT carrier (II:2, II:6, III:11, III:13). Line with two peaks (green): DNA from patient II:9 with heterozygous rs2363468 (T>C) SNP and absence of the c.3060–3063delCCTT mutation.
