Article
Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses.
Genetic testing and molecular biomarkers - 1 Dec 2009
Li Yuchan, Wang Dengbin, Wang Wenbin, Wang Jian, Li Huaiyuan, Wang Jing, Wang Xuefeng, Fu Qihua
Abstract excerpt
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder most frequently caused by the EXT1 and EXT2 gene mutations resulting in reduction or absence of heparan sulfate (HS) in the exostotic cartilage cap. In this study, we investigated the molecular defects in five Chinese pedigrees with HME by direct sequencing analysis. Two novel EXT1 gene mutations and two novel EXT2 gene mutations were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.