Fig. 2
From: LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
Schematic representation of rearrangements and repetitive elements present at breakpoints. The figure shows the sizes of studied duplications (top part) and deletions (bottom part), along with the character of repeats on each side of the breakpoint. The rearrangements are shown relative to the whole LDLR gene, which is shown at the top of the figure. In the LDLR schematic, exons are denoted by a vertical line, while the horizontal line represents introns. The orientation of coloured triangles denotes the orientation of Alu repeats at breakpoints, while their colour denotes an Alu repeat subfamily (as determined by RepeatMasker)