Background Hereditary multiple exostoses (HME) is an autosomal dominant disease. The G residue at position +1 in intron 4 of EXT2 was predicted to be a 5 donor splice site. The mRNA analysis revealed an alternative transcript with a cryptic splice site 5 bp downstream of the wild-type site, which harbored a premature stop codon.… Continue reading Background Hereditary multiple exostoses (HME) is an autosomal dominant disease. The