Article
Pathogenic gene screening and mutation detection in a Chinese family with multiple osteochondroma.
Genetic testing and molecular biomarkers - 1 Jul 2012
Wang Xue, Li Lin, Li Jiangxia, Sun Jiaqian, Heng Xueyuan, Gong Yaoqin, Liu Qiji
Abstract excerpt
Multiple osteochondroma (MO) is an autosomal dominant disease characterized by abnormal skeleton development: one or more exostoses localized mainly at the end of long bones. Three pathogenic gene loci have been identified and cloned: EXT1, 2, and 3. Only EXT1 and 2 mutations were reported to cause MO. Here, we report on a large Chinese family with MO and a disease-causing mutation in EXT. We extracted DNA from...
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