Fig. 6

Schematic drawing of the mutated region of the EXT1 gene at chromosomal location 8p24 from patient #13. Exons (Ex7, Ex8, Ex9) are given as black boxes, introns as straight lines. Repetitive elements (MIR, LTR, Alu, L2) are depicted as open boxes. The wildtype allele is shown at the top, the mutant allele at the bottom. Note that patient #13 contains a deletion of 4318 bp that includes exon 8. The two deletion breakpoints occur close to, but not within repetitive elements