Fig. 3
From: Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
Detection of novel EXT1 and EXT2 mutations. a Sequence analysis of EXT1 and EXT2 in the patients with hereditary multiple exostoses. Representative electropherograms of 5 novel EXT1 and EXT2 mutations are shown. They are also de novo mutations except for c.541delG (p.D181Ifs*89) in Family 6. Heterozygous mutations are present only in the patients. The mutation is indicated by an arrow. b Agarose gel analysis of a homozygous EXT2 exon 1 deletion. PCR products were run in a 1.3% agarose gel. Exon 1 was not amplified from patient #11 whereas the remaining exons 2–14 were amplified (only exon 2 amplification was shown)