Fig. 4

Sequencing of mutated exostosin-1 from patient #13. a Parts of the original sequencing chromatograms of the EXT1 cDNA are shown together with the DNA sequence of both strands and the deduced amino acid sequence in single letter code. The left panel shows sequencing from the 5′ end, the right panel sequencing from the 3′ end (complementary strand). Note that the cDNA sequence of patient #13 leads from the region of exon 7 directly into the region of exon 9. b Parts of the sequencing chromatograms of the genomic EXT1 DNA are depicted together with the DNA sequence. The position where a deletion is found when compared to the EXT1 gene (NC_000008.11) is indicated by an arrow. The left panel shows sequencing from the 5′ end of the EXT1 gene, the right panel sequencing from the 3′ end