Figure 3.
Sequence chromatogram from an affected individual shows the heterozygous c.1042G>A missense mutation in beaded structural filament protein-1 (BFSP1). The arrow indicates the mutation spot in the sequence of the affected individual.
Sequence chromatogram from an affected individual shows the heterozygous c.1042G>A missense mutation in beaded structural filament protein-1 (BFSP1). The arrow indicates the mutation spot in the sequence of the affected individual.