Article
A novel mutation in EXT2 gene in a Chinese family with hereditary multiple exostoses.
Genetic testing - 1 Sept 2008
Liu Shi Guo, Lu De Guo, Liu Zhong Qiang, Liu Chang Ying, Zhang An Ying, Li Zhen Qian, Ma Xu
Abstract excerpt
Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the presence of bony outgrowths on the long bones. In this report, we describe a Chinese family with HME. Linkage analysis and mutation detection were performed. Linkage with the EXT2 was established in this family. A novel mutation, EXT2 c239-244delG, was identified. Mutation analysis in a family with HME allows for genetic...
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