Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
Christophe Philippe, Daniel Edward Porter, Mark E. Emerton, Dan E. Wells, A. Hamish, R. Wallace Simpson, Anthony P. Monaco
Abstract
Christophe Philippe, Daniel Edward Porter, Mark E. Emerton, Dan E. Wells, A. Hamish, R. Wallace Simpson, Anthony P. Monaco
Abstract
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Key concepts: Frameshift mutation, Genetics, Missense mutation, Hereditary multiple exostoses, Nonsense mutation, Biology, Exon, Mutation