Figure 4From: Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigreeSchematic representation of the novel RP1 mutations. (A) Overview of chromosome 8. RP1 is mapped on region 8q12.1 (green bar). (B) Gene structure of RP1 gene containing 4 exons. The position of identified variants is stated with a broken line. Coding exons are shown as filled boxes while unfilled boxes reflect UTRs. (C) Electropherograms of patient II:5 showing the heterozygous mutations in exon 4 of RP1 gene. (D) RP1 protein representation with two doublecortin domains (DCX) marked in green, and the location of variants indicated by a broken line.Back to article page