Article
A novel mutation in the EXT1 gene identified in a Han Chinese kindred with hereditary multiple exostosis.
Genetic testing and molecular biomarkers - 1 Jun 2010
Wen Wen, Zhang Yang, Wang Yingbo, Cao Lihua, Wang Shusen, Luo Yang
Abstract excerpt
Hereditary multiple exostoses (HME) is an autosomal dominant bone disorder characterized by growth of benign multiple exostoses. In our present study, we describe a four-generation Han Chinese kindred with eight members affected by HME. Haplotyping analysis and mutation detection was performed. The results linked the disease-causing gene to the EXT1 locus on chromosome 8. A novel mutation in EXT1, c.1897delC,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.