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. 2020 Oct 25;143(10):2904–2910. doi: 10.1093/brain/awaa263

Figure 1.

Figure 1

Novel configuration of the RFC1 expansion in an Asian Pacific family. (A) Pedigree of Family Indo1. Half-shaded symbols represent individuals identified as (ACAGG) repeat expansion carriers by flanking PCR and RP-PCR. (B) Representative Sanger chromatogram of long-range, nested PCR products containing the novel (ACAGG) expansion at the RFC1 locus. The grey shaded region indicates the (ACAGG) repeat sequence. (C) Representative positive RP-PCR fragment analysis result for the (ACAGG) repeat expansion.