Article
A novel mutation in the EXT2 gene identified in two unrelated Chinese families with hereditary multiple exostoses.
Genetic testing - 1 Jan 2007
Liu Shi Guo, Li Fei Feng, Huang Shang Zhi, Chen Yang, Wang Jun, Lu De Guo, Zhang Meng, Ma Xu
Abstract excerpt
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by benign bone tumors. In this report, we describe two unrelated Chinese families with HME. Linkage analysis and mutation detection was performed. Clinical analysis was also performed for some affected individual in both families. Linkage with the EXT2 was established in both families. A novel mutation, c505 G > T, was identified...
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