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. 2007 Sep 26;81(5):1098–1103. doi: 10.1086/521953

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© 2007 by The American Society of Human Genetics. All rights reserved.

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Figure 2. — Pedigree structure and sequence analysis of TOPORS mutations. A and C, Canadian and German adRP-affected pedigrees, respectively, used in this study. Affected individuals are shown by blackened symbols, unaffected individuals are identified by unblackened symbols, and deceased individuals are indicated by a slash (/). Asymptomatic individuals are marked by an asterisk (*). Mutation segregation is shown on the pedigree as +/+ (normal) or +/− (affected). B, Electropherogram of the heterozygous mutation, c.2474_2475insA (p.Tyr825fs), in exon 3 of the TOPORS gene found in the Canadian family. D, Electropherogram of the heterozygous mutation found in the German family, c.2552_2553delGA (p.Arg851fs). Both mutations were identified after cloning of the amplified PCR product into pGEMT-Easy vector (Promega).