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Fig. 5 | SpringerPlus

Fig. 5

From: Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members

Fig. 5

Sequence of mutant exostosin-1 from patient #13. The amino acid sequence derived from the mRNA sequence was compared with the published protein sequence of exostosin-1 (NP_000118). The relative locations of introns in the EXT1 gene are indicated by arrows. Note that the sequence of patient #13 exactly lacks the region of the protein, which is derived from exon 8. The positions of two polymorphisms (rs7837891 and rs11546829) that were found in the cDNA are marked by asterisks. They did not lead to any change in the amino acid sequence

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